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.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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.153248del	c.1855del	deletion	19_ex	-	p.Thr619Leufs*4	-	frameshift	RB1_00232	germline	E1506	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.153253G>A	c.1860G>A	substitution	19_ex	-	variant	-	variant	RB1_01055	-	G421	no cancer	-	blood	DNA	-	-	Lohmann et al., 1996	1	published	-
?/?	g.153254C>A	c.1861C>A	Substitution	19_ex	-	p.Arg621Ser	-	missense	RB1_01573	somatic	S81307	other cancer	somatic	nd	DNA	-	-	Ikeda et al ,1995, COSM1046	1	published	benign / tolerated
+/?	g.153254C>A	c.1861C>A	Substitution	19_ex	-	p.Arg621Ser	-	missense	RB1_01573	unknown	Tab_1_29	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-
+/+?	g.153254C>T	c.1861C>T	Substitution	19_ex	-	p.Arg621Cys	-	missense	RB1_01392	-	Dox65	other cancer	germline	tumor	RNA	heterozygous	unknown	Berge et al. (2010) Mol Cancer. 2010 Jul 1;9:173.	1	published	isolated breast cancer
?/+	g.153252_153253del	c.1861_1862del	deletion	19_ex	-	p.Arg621Cysfs*31	-	frameshift	RB1_00137	unknown	RB205	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.153252_153253del	c.1861_1862del	deletion	19_ex	-	p.Arg621Cysfs*31	-	frameshift	RB1_00137	unknown	Fam579	bilateral rb	germline	nd	DNA	-	not reported	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.153266del	c.1873del	deletion	19_ex	-	p.Thr625Leufs*18	-	frameshift	RB1_00536	unknown	JA173	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
-?/-?	-	c.1876G>A + c.1693_1694dup, c.1815-5T>C, c.1966C>T	Substitution	19_ex	-	p.Ala626Thr	-	missense	RB1_01873	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.153270dup	c.1877dup	insertion	19_ex	-	-	-	frameshift	RB1_00832	-	Fam718	bilateral rb	germline	nd	DNA	-	familial	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.153276insAG	c.1883insAG	Insertion	19_ex	-	-	-	frameshift	RB1_01744	somatic	ng_un_is_tu_407	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.153276_153277del	c.1883_1884del	deletion	19_ex	-	p.Ala628Glyfs*24	-	frameshift	RB1_00260	unknown	#333	bilateral rb	somatic	retinoblastoma	DNA	homozygous	-	Sippel et al., 1998	1	published	-
?/+	g.153277_153278del	c.1884_1885del	deletion	19_ex	-	-	-	frameshift	RB1_01230	-	RB261	bilateral rb	germline	blood	DNA	-	familial	Blanquet et al., 1995	1	published	-
?/+	g.153278G>T	c.1885G>T	substitution	19_ex	-	p.Glu629X	-	nonsense	RB1_00392	somatic	E2854	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.153279_153280dup	c.1886_1887dup	insertion	19_ex	-	-	-	-	RB1_00897	-	Fam518	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	RB261	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1995	1	published	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	Fam474	unilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	Rb36	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	not provided	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	not provided	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.153280_153281del	c.1887_1888del	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown	not provided	-	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.153284C>T	c.1891C>T	substitution	19_ex	-	p.Gln631X	-	nonsense	RB1_00139	-	E844T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.153284C>T	c.1891C>T	substitution	19_ex	-	p.Gln631X	-	nonsense	RB1_00139	-	RB55	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.153284C>T	c.1891C>T	substitution	19_ex	-	p.Gln631X	-	nonsense	RB1_00139	-	not provided	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.153284delC	c.1891delC	Deletion	19_ex	-	p.(Gln631Lysfs*12)	-	frameshift	RB1_01930	unknown	Supp_Tab_Mt-78	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.153285ins153253_153284	c.1892_1893ins1860_1891	insertion	19_ex	-	p.Ala632ArgfsX21	-	frameshift	RB1_00140	-	E1012T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.153288del	c.1895del	deletion	19_ex	-	p.Ala632Glufs*11	-	frameshift	RB1_00833	unknown	Fam1	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.153292C>T	c.1899C>T	substitution	19_ex	-	-	-	-	RB1_00900	-	Fam593	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153294C>G	c.1901C>G	substitution	19_ex	-	p.Ser634X	-	nonsense	RB1_00141	-	G373	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/?	g.153295dup	c.1902dup	Insertion	19_ex	-	Ala635Serfs*18	-	frameshift	RB1_01578	germline	RB57tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	-	-
?/+	g.153295insTC	c.1902_1903insTC	insertion	19_ex	-	p.Ala635Serfs*9	-	frameshift	RB1_00259	unknown	#266	bilateral rb	somatic	retinoblastoma	DNA	homozygous	-	Sippel et al., 1998	1	published	-
?/?	g.153296G>C	c.1903G>C	substitution	19_ex	-	p.Ala635Pro	-	missense	RB1_00142	-	RB327	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
+/?	g.153296_153305dup	c.1903_1912dup	Duplication	19_ex	-	p.Thr638Serfs*18	-	frameshift	RB1_01428	unknown	IRB20	bilateral rb	somatic	Retinoblastoma Tumor	DNA	heterozygous	isolated	Iran:Tehran	1	-	-
?/+	g.153302C>T	c.1909C>T	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-	Fam27	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.153302C>T	c.1909C>T	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-	Fam13	unilateral rb	somatic	retinoblastoma	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	unpublished	-
?/+	g.153302C>T	c.1909C>T	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-	JA103	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.153302C>T	c.1909C>T	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-	Fam149	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
+/+	g.153302C>T	c.1909C>T + c.265G>T	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-	E5454-T	unilateral rb	somatic	tumor	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.153305del	c.1912del	Deletion	19_ex	-	p.(Thr638Profs*5)	-	frameshift	RB1_02077	germline	P_20140723_352	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.153308C>T	c.1915C>T	substitution	19_ex	-	p.Gln639X	-	nonsense	RB1_00143	-	G377	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.153322_153326delins22	c.1929_1934delins22	complex	19_ex	-	-	-	frameshift	RB1_00954	-	Fam540	bilateral rb	somatic	retinoblastoma	DNA	-	-	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153328_153329del	c.1935_1936del	deletion	19_ex	-	-	-	frameshift	RB1_00895	-	Fam476	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153330del	c.1937del	deletion	19_ex	-	p.Ser646Phefs*12	-	frameshift	RB1_00144	unknown	G362	bilateral rb	germline	blood	DNA	-	familial	Lohmann et al., 1994	1	published	-
+/+	g.153330_153333del	c.1937_1940del	Deletion	19_ex	-	p.(Ser646Phefs*11)	-	frameshift	RB1_01499	germline	E5566	bilateral rb	germline	blood	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/+	g.153332_153333del	c.1939_1940del	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	unknown	GOS45	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.153332_153333del	c.1939_1940del	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	unknown	RB272	unilateral rb	somatic	retinoblastoma	DNA	hemi/homozygous	-	Shimizu et al., 1994	1	published	-
?/+	g.153332_153333del	c.1939_1940del	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	unknown	Rb7	bilateral rb	germline	blood	DNA	not reported	-	Szijan et al., 1994	1	published	-
?/+	g.153332_153333del	c.1939_1940del	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	unknown	E1649T	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.153332_153333del	c.1939_1940del	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	germline	RB14	bilateral rb	germline	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
?/?	g.153333_153336del4	c.1940_1943del4	Deletion	19_ex	-	p.(Leu647Hisfs*10)	-	frameshift	RB1_01931	unknown	Supp_Tab_Mt-79	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.153334_153335del	c.1941_1942del	Deletion	19_ex	-	-	-	unknown	RB1_01641	germline	bilateral_384	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.153335del	c.1942del	deletion	19_ex	-	p.Ser648Hisfs*10	-	frameshift	RB1_00262	unknown	#345	bilateral rb	germline	blood	DNA	not reported	-	Sippel et al., 1998	1	published	-
+/+	g.153336C>A	c.1943C>A	Substitution	19_ex	-	p.Ser648*	-	nonsense	RB1_01865	germline	E6179	bilateral rb	unknown	blood	DNA	unknown	isolated	Lohmann, Germany:Essen	1	unpublished	-
+/?	g.153336delC	c.1943del	Deletion	19_ex	-	p.Ser648Tyrfs*10	-	frameshift	RB1_02005	unknown	IRB8	bilateral rb	germline	blood	DNA	-	isolated	Ahani et al.(2011) Cancer Genet.; 204(6):316-22, Iran:Tehran	1	published	-
?/?	g.153336delC	c.1943delC	Deletion	19_ex	-	p.(Ser648Tyrfs*10)	-	frameshift	RB1_01424	unknown	rs121908692	-	unknown	nd	DNA	-	-	dbSNP	1	published	-
?/+	g.153338_153342del	c.1945_1949del	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_00146	unknown	RB143	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1995	1	published	-
+/?	-	c.1947del	Substitution	19_ex	-	p.(Tyr651Ilefs*7)	-	frameshift	RB1_02040	unknown	Tab_1_18	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-
?/+	g.153340_153344del	c.1947_1951del	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_01232	unknown	F2382	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/?	g.153341_153344del4	c.1948_1951del4	Deletion	19_ex	-	p.(Phe650Ilefs*7)	-	frameshift	RB1_01932	unknown	Supp_Tab_Mt-80	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
+?/+?	g.153342T>A	c.1949T>A + c.1735dup	Substitution	19_ex	-	p.(Phe650Tyr)	-	missense	RB1_01856	somatic	E5953	retinoblastoma	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.153342T>C	c.1949T>C	substitution	19_ex	-	p.Phe650Ser	-	missense	RB1_00363	germline	E2678	bilateral rb	germline	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.153342_153350del	c.1949_1957del	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_00016	unknown	RB570	bilateral rb	germline	retinoblastoma	DNA	-	isolated	Dunn et al., 1989	1	published	-
?/+	g.153342_153350del	c.1949_1957del	deletion	19_ex	-	-	-	frameshift	RB1_00835	-	Fam52	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.153344delT	c.1951delT	Deletion	19_ex	-	-	-	frameshift	RB1_01639	germline	bilateral_379	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.153346T>G	c.1953T>G	Substitution	19_ex	-	p.Tyr651X	-	nonsense	RB1_01508	germline	RB19	bilateral rb	germline	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
+?/?	g.153347A>T	c.1954A>T	Substitution	19_ex	-	p.K652X	-	nonsense	RB1_01439	germline	483	bilateral rb	germline	blood	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.153347A>T	c.1954A>T	Substitution	19_ex	-	p.K652X	-	nonsense	RB1_01439	germline	RB3	bilateral rb	germline	blood	DNA	-	unknown	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
?/?	g.153347delA	c.1954del	Substitution	19_ex	-	p.Val654Cysfs*4	-	unknown	RB1_01564	somatic	SK-UT-1	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM25237	1	published	-
+/?	g.153347A>T	c.1956A>T	Substitution	19	-	-	-	nonsense	RB1_01537	germline	483	bilateral rb	germline	leukocytes	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.153351_153353del	c.1958_1960del	deletion	19_ex	-	p.Lys653del/splice	-	in-frame	RB1_00612	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.153352del	c.1959del	deletion	19_ex	-	p.Val654Lysfs*4	-	frameshift	RB1_00356	unknown	E2531	unilateral rb	germline	nd	DNA	heterozygous	familial	Lohmann - Essen	1	unpublished	-
?/+	g.153352del	c.1959del	deletion	19_ex	-	p.Val654Lysfs*4	-	frameshift	RB1_00356	unknown	Fam585	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153352dup	c.1959dup	insertion	19_ex	-	p.Val654Serfs*14	-	frameshift	RB1_00231	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.153352dup	c.1959dup	insertion	19_ex	-	p.Val654Serfs*14	-	frameshift	RB1_00231	unknown	not provided	-	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.153352dup	c.1959dup	insertion	19_ex	-	p.Val654Serfs*14	-	frameshift	RB1_00231	unknown	Fam869	unilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.153352dup	c.1959dup	insertion	19_ex	-	p.Val654Serfs*14	-	frameshift	RB1_00231	unknown	0763	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
+/?	-	c.1959dup	Substitution	19_ex	-	p.(Val654Serfs*14)	-	frameshift	RB1_02039	unknown	Tab_1_17	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-
?/?	g.153352_153353insA	c.1959_1960insA	Insertion	19_ex	-	-	-	frameshift	RB1_01687	germline	ge_uni_iso_tu50	unilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
+/+?	g.153353G>T	c.1960 G>T	Substitution	19_ex	-	p.Val654Leu	-	unknown	RB1_01459	-	nd	unilateral rb	germline	Blood	DNA	-	familial low penetrance	Hung et al. (2011) BMC Med Genet.;12(1):76.	1	published	36% penetrance in family of index patient, Mut found in 11 of 30 screened family members
?/?	g.153353G>A	c.1960G>A	substitution	19_ex	-	p.Val654Met/splice	-	missense-splice	RB1_00764	-	001-URB	unilateral rb	germline	blood	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-	not provided	-	-	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-	CU018	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-	BG#5	-	-	nd	DNA	-	-	-	1	unpublished	-
?/?	g.153353G>C	c.1960G>C	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	somatic	TCGA-06-0213	-	somatic	nd	DNA	-	-	Cancer Genome Atlas Research Network Nature. 2008, COSM35800	1	published	benign / tolerated
+/?	g.153353G>C	c.1960G>C	Substitution	19	altered splicing	-	-	splice	RB1_00315	germline	VNKVM0015	bilateral rb	germline	blood	DNA	unknown	familial	Viet Nam:Hanoi	1	unpublished	-
?/?	g.153353G>T	c.1960G>T	substitution	19_ex	altered splicing	-	-	splice	RB1_00402	-	Fam626	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.153353G>T	c.1960G>T	substitution	19_ex	altered splicing	-	-	splice	RB1_00402	-	E983	bilateral rb	germline	nd	DNA	heterozygous	familial	Lohmann - Essen	1	unpublished	-
?/?	g.153353G>T	c.1960G>T	substitution	19_ex	altered splicing	-	-	splice	RB1_00402	-	E12	bilateral rb	germline	blood	DNA	-	-	Zhang et al. (2008) Hum Mutat 29: 475	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	RB67	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	RB121	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	G376	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1994	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	E550	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	4	rb	germline	blood	DNA	-	familial	Jakubowska,et al. (2001) Hum Mutat 18(5): 459.	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	JA383	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	JA383	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	F3588	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/?	g.153354del	c.1960+1del	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-

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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)