View all contents - rb1-lsdb - Leiden Open Variation Database

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The variants below are all in the RB1 database. All fields are shown, including patient and pathogenicity information. A '+' in the cDNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RB1, are reported as the gene symbol with the number of reported variants between parenthesis.
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At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RB1 full legend here.

3394 public entries
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Path.

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in

Patient ID

Phenotype

Mut. origin

Tissue

Template

tumor-genotype

family history

Reference

# Reported

Published

Remarks


?/?	g.150037C>T	c.1735C>T	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	somatic	SW1783	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM892	1	published	-
+/?	g.150037C>T	c.1735C>T	Substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	germline	375	bilateral rb	germline	leukocytes	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.150037C>T	c.1735C>T	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	germline	RB11tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	-	-
?/?	g.150037C>T	c.1735C>T	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	germline	#12	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/?	g.150037C>T	c.1735C>T	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	somatic	#39/2013	unilateral rb	mosaicism	blood	DNA	unknown	isolated	Renieri- Siena	1	unpublished	-
?/?	g.150037C>T	c.1735C>T	Substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	unknown	Tab_1_13	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	3	published	-
+/?	g.150037C>T	c.1735C>T	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	germline	RB12	bilateral rb	germline	blood	DNA	-	isolated	Malaysia:Kuala Lumpur	1	unpublished	-
?/+	g.150037del	c.1735del	deletion	18_ex	-	-	-	frameshift	RB1_00451	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.150037del	c.1735del	deletion	18_ex	-	-	-	frameshift	RB1_00451	-	not provided	unilateral rb	somatic	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.150037del	c.1735del	deletion	18_ex	-	-	-	frameshift	RB1_00451	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
+/+	g.150037dup	c.1735dup + c.1949T>A	Duplication	18_ex	-	p.(Arg579Profs*6)	-	unknown	RB1_01857	somatic	E5953	retinoblastoma	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
+/+	g.150038del	c.1736del	Deletion	18_ex	-	Arg579Glnfs*32	-	frameshift	RB1_01465	somatic	E5559	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.150038delinsTCT	c.1736delinsTCT	complex	18_ex	-	-	-	-	RB1_00899	-	Fam554	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.150038_150047del	c.1736_1742del	deletion	18_ex	-	-	-	frameshift	RB1_01165	-	RB9	bilateral rb	germline	retinoblastoma	DNA	-	isolated	de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43	1	published	-
?/+	g.150037_150046del	c.1736_1745del	deletion	18_ex	-	p.Arg579Glnfs*29	-	frameshift	RB1_00014	unknown	E2T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.150038_150047del	c.1736_1745del	deletion	18_ex	-	-	-	frameshift	RB1_00886	-	Fam71	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.150040G>T	c.1738G>T	substitution	18_ex	-	p.Glu580X	-	nonsense	RB1_00131	-	RB61	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
+/?	-	c.1746_1749dup	Duplication	18_ex	-	p.Asp584Asnfs*2	-	frameshift	RB1_01984	somatic	fam-no_20003372	retinoblastoma	somatic	blood, tumour	DNA	unknown	isolated	Dommering et al. 2014, Germany:Essen	1	published	-
?/?	g.150050delC	c.1748delC	Deletion	18_ex	-	p.(Thr583Metfs*28)	-	frameshift	RB1_01928	unknown	Supp_Tab_Mt-74	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
+/?	-	c.1752_1753insGGTTTCA	Insertion	18_ex	-	p.His585Glyfs*5	-	frameshift	RB1_01985	germline	fam-no_20103308	retinoblastoma	germline	blood	DNA	unknown	isolated	Dommering et al. 2014, Germany:Essen	1	published	-
?/?	g.150055C>T	c.1753C>T	Substitution	18_ex	-	p.His585Tyr	-	missense	RB1_01406	-	GKU5546	unilateral rb	germline	blood	DNA	-	familial	Anthony Raizis	1	-	Detected in 62 y old European, de novo in mother
?/?	g.150055C>T	c.1753C>T	Substitution	18_ex	-	p.His585Tyr	-	missense	RB1_01406	-	BG#504	retinoblastoma	-	nd	DNA	-	familial	-	1	unpublished	-
?/+	g.150056_150065del	c.1754_1763del	Deletion	18_ex	-	p.His585Leufs*23	-	frameshift	RB1_00673	unknown	Fam91	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.150061G>T	c.1759G>T	Substitution	18_ex	-	p.Glu587X	-	nonsense	RB1_01743	somatic	ng_un_is_tu_399	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.150058_150067del	c.1760_1769del	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00132	unknown	TS64	-	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.150061_150070del	c.1760_1769del	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00133	unknown	RB543	bilateral rb	germline	retinoblastoma	DNA	homozygous	isolated	Dunn et al., 1989	1	published	-
?/+	g.150058_150067del	c.1760_1769del	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00132	unknown	RB543	bilateral rb	germline	retinoblastoma	DNA	homozygous	isolated	Dunn et al., 1989	1	published	-
?/+	g.150061_150070del	c.1760_1769del	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00133	unknown	RB54	bilateral rb	germline	retinoblastoma	DNA	heterozygous	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.150061_150070del	c.1760_1769del	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00133	unknown	Fam105	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.150062_150071del10	c.1760_1769del10	Deletion	18_ex	-	p.(Glu587Valfs*21)	-	frameshift	RB1_01929	unknown	Supp_Tab_Mt-75	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.150064ins4	c.1762_1763ins4	insertion	18_ex	-	-	-	frameshift	RB1_00484	-	RB65	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
+/+	g.150066del	c.1764del	Deletion	18_ex	-	p.(Ala589Leufs*22)	-	frameshift	RB1_01863	germline	E430	bilateral rb	germline	blood	DNA	unknown	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/+	g.150067insGG	c.1765_1766insGG	insertion	18_ex	-	p.Ala589Glyfs*23	-	frameshift	RB1_00702	unknown	not provided	bilateral rb	germline	retinoblastoma	DNA	-	familial	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.150067insGG	c.1765_1766insGG	insertion	18_ex	-	p.Ala589Glyfs*23	-	frameshift	RB1_00702	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
+/?	-	c.1770T>A	Substitution	18_ex	-	p.Cys590*	-	nonsense	RB1_01986	germline	fam-no_20103814	retinoblastoma	germline	blood	DNA	unknown	isolated	Dommering et al. 2014, Germany:Essen	1	published	T>C reported in LOVD
?/?	g.150072T>C	c.1770T>C	Substitution	18_ex	-	p.Cys590Cys	-	silent	RB1_01394	-	not provided	retinoblastoma	unknown	nd	DNA	unknown	familial	Alonso et al. (2001) Hum Mutat. 2001 May;17(5):437.	1	-	-
?/+	g.150077_150090del	c.1775_1788del	deletion	18_ex	-	-	-	frameshift	RB1_00468	somatic	E3164	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.150080delA	c.1778delA	Substitution	18_ex	-	-	-	frameshift	RB1_01746	somatic	ng_un_is_tu_403	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.150080dup	c.1778dup	insertion	18_ex	-	-	-	-	RB1_00829	-	Fam937	unilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.150091C>T	c.1789C>T	substitution	18_ex	-	p.Gln597X	-	nonsense	RB1_00230	somatic	E1338	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.150094_150121del28	c.1792_1814+5del28	Deletion	18_ex	splice_donor del	-	-	unknown	RB1_01889	unknown	Supp_Tab_Mt-76	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.150098A>G	c.1796A>G	substitution	18_ex	-	variant	-	variant	RB1_01051	-	not provided	no cancer	germline	blood	DNA	-	-	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/?	g.150098A>G	c.1796A>G	substitution	18_ex	-	variant	-	variant	RB1_01051	unknown	rs3092896	-	unknown	nd	DNA	-	-	dbSNP	1	-	benign/ tolerated
?/+	g.150098dup	c.1796dup	insertion	18_ex	-	p.Asn599Lysfs*54	-	frameshift	RB1_00376	somatic	E2758	bilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.150102del	c.1800del	deletion	18_ex	-	p.His600Glnfs*11	-	frameshift	RB1_00535	unknown	JA303	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.150104del	c.1802del	deletion	18_ex	-	p.(Thr601Metfs*10)	-	frameshift	RB1_00583	unknown	18b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.150104del	c.1802del	deletion	18_ex	-	p.(Thr601Metfs*10)	-	frameshift	RB1_00583	unknown	18b	rb	germline	blood	DNA	-	-	JL Gala - Brussels	1	unpublished	-
?/+	g.150105del	c.1803del	deletion	18_ex	-	p.(Ala602Glnfs*9)	-	frameshift	RB1_00554	unknown	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.150108del	c.1806del	deletion	18_ex	-	-	-	frameshift	RB1_00734	somatic	E3443	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.150109del	c.1807del	deletion	18_ex	-	-	-	frameshift	RB1_00830	-	Fam306	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.150112_150113dup	c.1810_1811dup	insertion	18_ex	-	p.Asp604Glufs*8	-	frameshift	RB1_00134	unknown	G457	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1994	1	published	-
?/?	g.150113A>G	c.1811A>G	substitution	18_ex	-	p.Asp604Gly	Asp604Gly	missense-splice	RB1_00401	-	E380	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.150113A>G	c.1811A>G	substitution	18_ex	-	p.Asp604Gly	Asp604Gly	missense-splice	RB1_00401	-	1	bilateral rb	-	retinoblastoma	DNA	-	-	Van Orsouw et al. (1996) Hum Mol Genet 5: 755	1	published	-
?/?	g.150113A>G	c.1811A>G	substitution	18_ex	-	p.Asp604Gly	Asp604Gly	missense-splice	RB1_00401	-	RB-20	bilateral rb	-	nd	DNA	-	isolated	-	1	unpublished	The mutation was not present in 100 normal chromosomes and was not detected in peripheral blood of both parents.
?/?	g.150117G>A	c.1814+1G>A	substitution	18_in	simple skip	simple skip	-	splice	RB1_00274	-	ID068	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.150117G>A	c.1814+1G>A	substitution	18_in	simple skip	simple skip	-	splice	RB1_00274	-	not provided	-	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.150117G>A	c.1814+1G>A	substitution	18_in	simple skip	simple skip	-	splice	RB1_00274	-	not provided	-	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.150117G>A	c.1814+1G>A	substitution	18_in	simple skip	simple skip	-	splice	RB1_00274	-	not provided	-	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.150117G>C	c.1814+1G>C	substitution	18_in	altered splicing	-	-	splice	RB1_00212	-	G1111	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/?	g.150118T>C	c.1814+2T>C	substitution	18_in	altered splicing	-	-	splice	RB1_00597	-	JA533	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/?	g.150118T>C	c.1814+2T>C	substitution	18_in	altered splicing	-	-	splice	RB1_00597	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.150118T>C	c.1814+2T>C	substitution	18_in	altered splicing	-	-	splice	RB1_00597	somatic	TCGA-02-0052	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM35483	1	published	-
?/?	g.150118T>G	c.1814+2T>G	substitution	18_in	altered splicing	-	-	splice	RB1_00295	germline	E1410	-	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	Multifokales Retinom +
?/?	g.150119A>C	c.1814+3A>C	Substitution	18_in	splice	-	-	splice	RB1_01777	germline	#12	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/?	g.150127T>C	c.1814+11T>C	substitution	18_in	-	variant	-	variant	RB1_00214	-	DEB (RB129)	unilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1993	1	published	-
?/?	g.150127T>C	c.1814+11T>C	substitution	18_in	altered splicing	-	-	variant	RB1_01052	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/+	g.150148A>G	c.1814+32A>G	substitution	18_in	-	-	-	nonsense	RB1_00525	-	SNU-RB3	bilateral rb	germline	blood	DNA	-	isolated	Yu et al. (2001) Hum Mutat 18(3): 252.	1	published	-
?/?	g.150188T>G	c.1814+72T>G	substitution	18_in	-	variant	-	variant	RB1_01074	-	not provided	no cancer	-	nd	DNA	-	-	Lohmann - Essen	1	published	-
?/?	g.153095A>G	c.1815-113A>G	substitution	18_in	-	variant	-	variant	RB1_01053	-	not provided	no cancer	germline	blood	DNA	-	-	dbSNP	1	published	reported in: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.
?/?	g.153104A>G	c.1815-104A>G	substitution	18_in	-	variant	-	variant	RB1_01054	-	not provided	no cancer	germline	blood	DNA	-	-	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/?	g.153197A>G	c.1815-11A>G	substitution	18_in	-	intron inclusion 10bp	-	splice new acceptor	RB1_00640	-	008-URB	unilateral rb	germline	blood	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.153104delA	c.1815-10delA	Deletion	18_in	-	-	-	unknown	RB1_01841	somatic	rs66474603	no cancer	somatic	nd	DNA	-	-	dbSNP	1	published	-
-?/-?	-	c.1815-5T>C + c.1693_1694dup, c.1876G>A, c.1966C>T	Substitution	18_in	-	-	-	variant	RB1_01874	unknown	#2226	bilateral rb	germline	blood	DNA	unknown	familial	Gallie:Toronto	1	unpublished	Patient is heterozygous for a frameshift alteration and for two missense alterations.
?/?	g.153203_153204dup	c.1815-5_1815-4dup	insertion	18_in	altered splicing	-	-	splice	RB1_00213	-	BB1	bilateral rb	germline	blood	DNA	not reported	isolated	Liu et al., 1995	1	published	-
?/?	g.153206A>G	c.1815-2A>G	Substitution	18_in	splice	-	-	splice	RB1_01669	germline	unilat_fam_18	unilateral rb	germline	blood	DNA	-	familial	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.153207G>A	c.1815-1G>A	substitution	18_in	altered splicing	-	-	splice	RB1_01150	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.153207G>C	c.1815-1G>C	Substitution	18_in	-	-	-	unknown	RB1_01753	somatic	ng_un_is_tu_421	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
+?/?	g.153207G>T	c.1815-1G>T	Substitution	18_in	-	-	-	splice	RB1_01438	unknown	501	unilateral rb	germline	blood	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.153240delinsTT	c.1847delinsTT	Insertion/Deletion	18_ex	-	p.(Lys616Ilefs*37)	-	frameshift	RB1_02076	germline	P_20140723_360	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/?	g.153358	G>A	Substitution	19	c.1960+5G>A	-	-	splice	RB1_02110	germline	02	bilateral rb	germline	peripheral blood	DNA	unknown	isolated	Brazil:Rio de Janeiro	1	unpublished	-
?/+	g.153209dup	c.1816dup	insertion	19_ex	-	p.Tyr606Leufs*47	-	frameshift	RB1_00135	unknown	E638T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/?	g.153210dupA	c.1817dupA	Duplication	19_ex	-	p.(Tyr606*)	-	nonsense	RB1_01944	unknown	Supp_Tab_Mt-77	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.153211T>G	c.1818T>G	substitution	19_ex	-	p.Tyr606X	-	nonsense	RB1_01195	-	fRB17	bilateral rb	germline	blood	DNA	-	familial	Najera et al. (2001) Med Clin (Barc) 116: 365	1	published	-
+/+?	g.153212C>A	c.1819C>A	Substitution	19_ex	-	p.Leu607Ile	-	missense	RB1_01391	-	FUMI07	other cancer	somatic	tumor	RNA	heterozygous	unknown	Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173.	1	published	isolated breast cancer
?/?	g.153213_153214del	c.1820_1821del	Deletion	19_ex	-	p.Pro609Cysfs*43	-	frameshift	RB1_02015	somatic	#712	unilateral rb	somatic	tumour	DNA	heterozygous	isolated	Renieri - Siena	1	unpublished	-
?/+	g.153218del	c.1825del	deletion	19_ex	-	p.(Pro609Leufs*2)	-	frameshift	RB1_00758	unknown	19b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.153218del	c.1825del	deletion	19_ex	-	p.(Pro609Leufs*2)	-	frameshift	RB1_00758	unknown	19b	bilateral rb	germline	blood	DNA	-	-	JL Gala - Brussels	1	unpublished	-
?/+	g.153221_153222del	c.1828_1829del	deletion	19_ex	-	p.Val610Lysfs*42	-	frameshift	RB1_00136	unknown	G232	bilateral rb	germline	blood	DNA	-	familial	Lohmann et al., 1994	1	published	-
?/+	g.153226del	c.1833del	deletion	19_ex	-	p.Arg611Serfs*12	-	frameshift	RB1_01229	unknown	CO285	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
+/?	g.153227T>C	c.1834T>C	Substitution	19_ex	-	p.Ser612Pro	-	missense	RB1_01405	-	Case 3	other cancer	unknown	tumor	RNA	unknown	unknown	Kubota et al. (1995) Prostate. 1995 Dec;27(6):314-20.	1	published	prostate cancer
?/?	g.153236A>T	c.1843A>T	substitution	19_ex	-	p.Lys615X	-	-	RB1_01379	-	S; pt# 11	bilateral retinoma	germline	blood	DNA	-	isolated	Abouzeid et al. (2009), Mol Vis.;15:771-7	1	published	-
?/+	g.153236del	c.1843del	deletion	19_ex	-	-	-	frameshift	RB1_00831	-	Fam115	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.153241del	c.1848del	deletion	19_ex	-	p.Gly617Valfs*6	-	frameshift	RB1_00444	somatic	E3247	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
+/+	g.153241dup	c.1848dup	Duplication	19_ex	-	p.(Gly617Argfs*36)	-	frameshift	RB1_01640	germline	bilateral_381	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.153243del	c.1850del	deletion	19_ex	-	p.Gly617Valfs*6	-	frameshift	RB1_00240	unknown	RB-210	bilateral rb	germline	blood	DNA	-	familial	Mateu et al., 1997	1	published	-
?/+	g.153243del	c.1850del	deletion	19_ex	-	p.Gly617Valfs*6	-	frameshift	RB1_00240	unknown	fRB36	bilateral rb	germline	blood	DNA	-	familial	Najera et al. (2001) Med Clin (Barc) 116: 365	1	published	-
?/?	g.153243_153246dup	c.1850_1853dupGTTC	Duplication	19_ex	-	-	-	frameshift	RB1_01688	germline	ge_uni_iso_tu51	unilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
-?/?	g.153244T>C	c.1851T>C	Substitution	19_ex	-	p.Gly617Gly	-	silent	RB1_01423	-	IRB7	unilateral rb	somatic	Retinoblastoma Tumor	DNA	heterozygous	-	Iran:Tehran	1	-	-
?/?	g.153246C>G	c.1853C>G	Substitution	19_ex	-	S618X	-	unknown	RB1_01706	somatic	ng_un_is_tu_181	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	Patient has c.920C>T in blood, c.861+1G>A +c.1853C>G in tumor
+/+	g.153246C>G	c.1853C>G	Substitution	19_ex	-	p.Ser618*	-	nonsense	RB1_01869	germline	E6225	bilateral rb	germline	blood	DNA	unknown	familial	Lohmann, Germany:Essen	1	unpublished	-

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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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rb1-lsdb

retinoblastoma 1 (RB1)