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.77028T>G	c.1449T>G	substitution	16_ex	-	p.His483Gln	-	-	RB1_01194	-	case 2	bilateral rb	germline	blood	DNA	-	-	Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166	1	published	-
?/?	g.77029_77030del	c.1450-1451del	Deletion	16_in	-	p.Met484Valfs*	-	frameshift	RB1_02012	somatic	#1356/2013	unilateral rb	mosaicism	blood	DNA	unknown	isolated	Renieri - Siena	1	unpublished	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00105	unknown	E557T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00105	unknown	G415	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1994	1	published	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00595	unknown	G415	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00595	unknown	JA83	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00105	unknown	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00105	unknown	Fam740	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.77029_77030del	c.1450_1451del	deletion	16_ex	-	p.Met484Valfs*8	-	frameshift	RB1_00105	unknown	Fam749	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77029_77030deldupAT	c.1450_1451dupAT	Duplication	16_ex	-	-	-	frameshift	RB1_01736	somatic	ng_un_is_tu_343	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.77029insCATTTTT	c.1450_1451insCATTTTT	insertion	16_ex	-	p.Met484Thrfs*11	-	frameshift	RB1_01325	unknown	F2170	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/?	g.77030_77049delinsCA	c.1451_1470delinsCA	complex	16_ex	-	p.Ser485_Ala490del	-	in-frame	RB1_00326	germline	E2321	bilateral rb	germline	nd	DNA	hemi/homozygous	familial	Lohmann - Essen	1	unpublished	-
?/?	g.77031_77032delGT	c.1452_1453del	Deletion	16_ex	-	p.Met484Ilefs*8	-	frameshift	RB1_01557	somatic	S83102	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM917, Gouyer et al., 1997	1	published	-
+/?	-	c.1453_1456del	Deletion	16_ex	-	p.Ser485Tyrfs*9	-	frameshift	RB1_01981	germline	fam-no_19962146	retinoblastoma	germline	blood	DNA	unknown	isolated	Dommering et al. 2014, Germany:Essen	1	published	-
?/?	g.77033C>T	c.1454C>T	Substitution	16_ex	-	p.(Ser485Phe)	-	missense	RB1_01879	unknown	Supp_Tab_Mt-66	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
+/+	g.77033	c.1454del	Deletion	16_ex	-	-	-	frameshift	RB1_01388	-	E5340	bilateral rb	germline	blood	DNA	unknown	isolated	Germany:Essen	1	unpublished	-
?/+	g.77035_77036del	c.1456_1457del	deletion	16_ex	-	p.Leu486Ilefs*6	-	frameshift	RB1_00324	unknown	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.77035_77036del	c.1456_1457del	deletion	16_ex	-	p.Leu486Ilefs*6	-	frameshift	RB1_00324	unknown	Fam825	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.77035_77036del	c.1456_1457del	deletion	16_ex	-	-	-	frameshift	RB1_00940	-	Fam749	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77035_77036del	c.1456_1457del	deletion	16_ex	-	p.Leu486Ilefs*6	-	frameshift	RB1_00324	unknown	E5270	unilateral rb	somatic	retinoblastoma	DNA	LOH	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.77035_77036del	c.1456_1457del	deletion	16_ex	-	p.Leu486Ilefs*6	-	frameshift	RB1_00324	somatic	LB831-BLC	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM18091	1	published	-
?/+	g.77036ins35	c.1457_1458ns35	insertion	16_ex	-	491X	-	frameshift	RB1_00700	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.77036_77039del	c.1457_1460del	deletion	16_ex	-	p.Leu486Trpfs*8	-	frameshift	RB1_00106	unknown	G419	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1994	1	published	-
?/+	g.77037del	c.1458del	deletion	16_ex	-	p.Leu486Phefs*9	-	frameshift	RB1_00286	germline	E1725	bilateral rb	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.77041del	c.1462del	Deletion	16_ex	-	p.(Ala488Argfs*7)	-	frameshift	RB1_02069	germline	P_20140723_291	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/?	g.77042C>A	c.1463C>A	substitution	16_ex	-	p.Ala488Glu	-	-	RB1_01375	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	homozygous	isolated	-	1	unpublished	-
?/?	g.77042dup	c.1463dup	Insertion	16_ex	-	p.(Cys489Valfs*4)	-	frameshift	RB1_02070	germline	P_20140723_278	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/?	g.77044T>C	c.1465T>C	substitution	16_ex	-	p.Cys489Arg	-	missense	RB1_00249	germline	E396	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.77045G>A	c.1466G>A	Substitution	16_ex	-	p.Cys489Tyr	-	missense	RB1_01684	somatic	ge_uni_iso_tu36	unilateral rb	mosaicism	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.77046C>A	c.1467C>A	substitution	16_ex	-	p.Cys489X	-	nonsense	RB1_00107	-	RB231	unilateral rb	somatic	retinoblastoma	DNA	hemi/homozygous	-	Shimizu et al., 1994	1	published	-
?/+	g.77046C>A	c.1467C>A	substitution	16_ex	-	p.Cys489X	-	nonsense	RB1_00107	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.77046C>A	c.1467C>A	substitution	16_ex	-	p.Cys489X	-	nonsense	RB1_00107	-	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.77046C>A	c.1467C>A	substitution	16_ex	-	p.Cys489X	-	nonsense	RB1_00107	-	T5	unilateral rb	-	retinoblastoma	DNA	heterozygous	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
+/?	-	c.1468G>A	Substitution	16_ex	-	p.(Ala490Thr)	-	missense	RB1_02044	unknown	Tab_1_28	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-
?/?	g.77047G>T	c.1468G>T	substitution	16_ex	-	p.Ala490Ser	-	missense	RB1_00246	germline	E945	-	-	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/+	g.77047_77048del	c.1468_1469del	deletion	16_ex	-	-	-	frameshift	RB1_01225	-	not provided	rb	-	blood	DNA	-	-	Alonso et al. (2006) Med Clin (Barc) 126: 401	1	published	-
?/+	g.77047_77048del	c.1468_1469del	deletion	16_ex	-	-	-	frameshift	RB1_01225	-	SR21	bilateral rb	germline	blood	DNA	-	familial	Kontic et al. (2006) J Hum Genet 51: 909	1	published	-
?/+	g.77050ins43	c.1471_1472ins43	insertion	16_ex	-	498X	-	frameshift	RB1_00701	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/?	g.77051T>C	c.1472T>C	substitution	16_ex	-	p.Leu491Pro	-	missense	RB1_00417	-	not provided	-	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.77051T>C	c.1472T>C	substitution	16_ex	-	p.Leu491Pro	-	missense	RB1_00417	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.77054del	c.1475del	deletion	16_ex	-	p.Glu492Glyfs*3	-	frameshift	RB1_00247	germline	E744	unilateral rb	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.77058T>C	c.1479T>C	substitution	16_ex	-	p.Val493Val	-	-	RB1_01329	-	case 5	bilateral rb	germline	blood	DNA	-	isolated	Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166	1	published	-
?/?	g.77065_g.77066insT	c.1486_1487insT	Insertion	16_ex	-	p.Ala496Valfs*4	-	frameshift	RB1_01558	somatic	CPC-N	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM18093	1	published	-
?/+	g.77065_77077delins4	c.1486_1499delins4	complex	16_ex	-	p.Ala496X	-	frameshift	RB1_00596	-	JA453	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/?	g.77068del	c.1489del	Deletion	16_ex	-	p.(Thr497Hisfs*22)	-	frameshift	RB1_02071	germline	P_20140723_292	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.77069_77070del	c.1490_1491del	deletion	16_ex	-	p.Thr497Ilefs*2	-	frameshift	RB1_00108	unknown	G448	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1994	1	published	-
?/+	g.77069_77070del	c.1490_1491del	deletion	16_ex	-	p.Thr497Ilefs*2	-	frameshift	RB1_00108	unknown	G448	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.77069_77070del	c.1490_1491del	deletion	16_ex	-	p.Thr497Ilefs*2	-	frameshift	RB1_00108	unknown	not provided	-	-	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.77073delT	c.1494delT	Deletion	16_ex	-	p.(Tyr498*)	-	nonsense	RB1_01943	unknown	Supp_Tab_Mt-67	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.77073T>A	c.1494T>A	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00109	-	E684T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.77073T>A	c.1494T>A	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00109	-	RB44	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.77073T>A	c.1494T>A	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00109	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.77073T>A	c.1494T>A	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00109	-	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.77073T>G	c.1494T>G	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00314	-	E35	-	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/+	g.77073T>G	c.1494T>G	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00314	-	Fam569	bilateral rb	germline	nd	DNA	-	familial	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77073T>G	c.1494T>G	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00314	germline	RB47tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	unpublished	-
?/?	g.77073T>G	c.1494T>G	substitution	16_ex	-	p.Tyr498X	-	nonsense	RB1_00314	germline	#10	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/+	g.77073_77074dup	c.1494_1495dup	insertion	16_ex	-	p.Ser499Ilefs*21	-	frameshift	RB1_00110	unknown	TS76	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/?	g.77077A>A	c.1498A>A	substitution	16_ex	altered splicing	-	-	missense-splice	RB1_00821	-	Fam247	bilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77077A>C	c.1498A>C	substitution	16_ex	altered splicing	-	-	splice	RB1_01328	-	case 4	bilateral rb	germline	blood	DNA	-	isolated	Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166	1	published	-
?/?	g.77077A>G	c.1498A>G	substitution	16_ex	p.Arg500Gly/skip exon 16	p.Arg500Gly/skip exon 16	-	missense-splice	RB1_00527	-	SNU-RB24	unilateral rb	germline	blood	DNA	-	isolated	Yu et al. (2001) Hum Mutat 18(3): 252.	1	published	-
?/?	g.77077del	c.1498del	Deletion	16_ex	-	p.(Arg500Glufs*19)	-	frameshift	RB1_02072	germline	P_20140723_288	bilateral rb	germline	blood	DNA	unknown	familial	Houdayer - Paris	1	unpublished	-
?/?	g.77078G>A	c.1498+1G>A	substitution	16_in	skip exon 17	skip exon 17	-	splice	RB1_00333	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.77078G>A	c.1498+1G>A	substitution	16_in	skip exon 17	skip exon 17	-	splice	RB1_00333	-	E1866T	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.77078G>A	c.1498+1G>A	substitution	16_in	skip exon 17	skip exon 17	-	splice	RB1_00333	somatic	NCI-H2330	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM13737	1	published	-
?/?	g.77078G>C	c.1498+1G>C	Substitution	16_in	splice	-	-	splice	RB1_01732	somatic	ng_un_is_tu_316	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.77078G>T	c.1498+1G>T	Substitution	16_in	splice_donor	-	-	splice	RB1_01895	unknown	Supp_Tab_Mt-68	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.77079T>C	c.1498+2T>C	substitution	16_in	altered splicing	-	-	splice	RB1_00921	-	Fam861	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77079T>C	c.1498+2T>C	substitution	16_in	altered splicing	-	-	splice	RB1_00921	-	not provided	rb	germline	blood	DNA	-	-	Zhang et al. (1997) Yan Ke Xue Bao 13: 5	1	published	-
?/?	g.77079T>G	c.1498+2T>G	substitution	16_in	altered splicing	-	-	splice	RB1_00437	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.77079T>G	c.1498+2T>G	substitution	16_in	altered splicing	-	-	splice	RB1_00437	-	Fam851	unilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77080A>C	c.1498+3A>C	substitution	16_in	altered splicing	-	-	splice	RB1_00922	-	Fam882	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.77080A>T	c.1498+3A>T	Substitution	16_in	splice_donor	-	-	splice	RB1_01896	unknown	Supp_Tab_Mt-69	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.77080+3ins61	c.1498+3ins61	Insertion	16_in	-	-	-	unknown	RB1_01716	somatic	ng_un_is_tu_228	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.77081A>G	c.1498+4A>G	Substitution	16_in	splice	-	-	splice	RB1_01628	germline	bilateral_298	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.77081A>T	c.1498+4A>T	Substitution	16_in	splice	-	-	splice	RB1_01683	somatic	ge_uni_iso_tu35	unilateral rb	mosaicism	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.77082del	c.1498+5del	Deletion	16_in	altered splicing	-	-	unknown	RB1_02010	germline	#714	bilateral rb	germline	blood	DNA	unknown	isolated	Renieri - Siena	1	unpublished	-
?/?	g.77082G>A	c.1498+5G>A	substitution	16_in	altered splicing	-	-	splice	RB1_00207	-	G393	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/?	g.77082G>A	c.1498+5G>A	substitution	16_in	altered splicing	-	-	splice	RB1_00207	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
?/?	g.77082G>C	c.1498+5G>C	substitution	16_in	altered splicing	-	-	splice	RB1_01246	-	Rb225	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/?	g.77082G>T	c.1498+5G>T	substitution	16_in	altered splicing	-	-	splice	RB1_00381	somatic	E2602	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
+?/+?	g.77083T>A	c.1498+6T>A	Substitution	16_in	-	-	-	splice	RB1_02097	germline	E6271	unilateral rb	germline	blood	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.77901T>A	c.1499-182T>A	substitution	16_in	-	variant	-	variant	RB1_01111	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.77966T>C	c.1499-117T>C	substitution	16_in	-	variant	-	variant	RB1_01112	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.78026del	c.1499-57del	deletion	16_in	-	variant	-	variant	RB1_01113	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.78026del	c.1499-57del	deletion	16_in	-	variant	-	variant	RB1_01113	-	not provided	retinoblastoma	unknown	nd	DNA	unknown	familial	Alonso et al. (2001) Hum Mutat. 2001 May;17(5):437.	1	published	-
?/?	g.78073del	c.1499-10del	deletion	16_in	-	variant	-	variant	RB1_01309	-	KS-228	other tumor	-	osteosarcoma	DNA	heterozygous	-	Wadayama et al., 1994	1	published	-
?/?	g.78073del	c.1499-10del	deletion	16_in	-	variant	-	variant	RB1_01309	-	not provided	rb	germline	blood	DNA	-	-	Leone et al. (2003) J Hum Genet 48(12): 639-41.	1	published	-
?/?	g.78081A>C	c.1499-2A>C	substitution	16_in	altered splicing	-	-	splice	RB1_01261	-	case 1	bilateral rb	germline	blood	DNA	-	-	Dundar et al. (2001) Proc Natl Sci Counc Repub China B 25: 166	1	published	-
?/?	g.78081A>G	c.1499-2A>G	Substitution	16_in	altered splicing	-	-	unknown	RB1_01484	somatic	NCI-H2141	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM28299	1	published	-
?/?	g.78081A>T	c.1499-2A>T	substitution	16_in	altered splicing	-	-	splice	RB1_01260	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
?/?	g.78082G>A	c.1499-1G>A	substitution	16_in	altered splicing	-	-	splice	RB1_01146	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.78082G>A	c.1499-1G>A	substitution	16_in	altered splicing	-	-	splice	RB1_01146	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
+/+	g.78082G>T	c.1499-1G>T	Substitution	16_in	-	-	-	splice	RB1_01414	-	E705	unilateral rb	somatic	tumor	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.78082G>T	c.1499-1G>T	Substitution	16_in	Essential splice site	-	-	splice	RB1_01414	somatic	NCI-H1926	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM1034	1	published	-
?/?	g.78082G>T	c.1499-1G>T	Substitution	16_in	-	-	-	splice	RB1_01414	somatic	S85674	other cancer	somatic	tumor	DNA	-	-	Pellin et al, 1997,	1	published	Cosmic (COSM1034)
?/?	g.78177	C>T	Substitution	17	c.1593C>T	p.Ile532Ile	-	splice	RB1_02109	germline	01	unilateral rb	germline	peripheral blood	DNA	unknown	isolated	Brazil:Rio de Janeiro	1	unpublished	-
-/?	g.82599	C>T	Substitution	17	c.1596	p.Ile532Ile	-	silent	RB1_02109	germline	HSM	unilateral rb	germline	peripheral blood	DNA	unknown	isolated	NC_000013.10, Brazil:Rio de Janeiro	1	unpublished	-
?/+	g.78083del	c.1499del	deletion	17_ex	-	-	-	frameshift	RB1_00903	-	Fam751	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.78083G>T	c.1499G>T	substitution	17_ex	-	p.Arg500Ile	-	-	RB1_01331	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-

1901 - 2000
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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)