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.39478G>A	c.297G>A	substitution	03_ex	-	p.Trp99X	-	nonsense	RB1_00040	-	T11	unilateral rb	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/+	g.39478G>A	c.297G>A	substitution	03_ex	-	p.Trp99X	-	nonsense	RB1_00040	-	F5243	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/?	g.39479G>T	c.298G>T	Substitution	03_ex	-	p.Gly100X	-	unknown	RB1_01790	somatic	ge_is_uni_28	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	2nd mut in tumor
?/?	g.39483delT	c.302delT	Deletion	03_ex	-	-	-	unknown	RB1_01426	-	RB-70	bilateral rb	-	nd	DNA	-	-	-	1	-	-
?/+	g.39486_39487del	c.305_306del	deletion	03_ex	-	p.Cys102Tyrfs*7	-	frameshift	RB1_00041	unknown	RB499	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.39485_39486del	c.305_306del	deletion	03_ex	-	p.Cys102Tyrfs*7	-	frameshift	RB1_00566	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.39489_39490dup	c.308_309dup	Duplication	03_ex	-	-	-	unknown	RB1_01699	somatic	ng_un_is_tu_165	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.39491_39506del	c.310_325del	deletion	03_ex	-	p.Phe104Thrfs*2	-	frameshift	RB1_01305	unknown	KS-118	other cancer	somatic	osteosarcoma	DNA	homozygous	-	Wadayama et al., 1994	1	published	osteosarcoma
?/?	g.39493delT	c.312delT	Deletion	03_ex	-	-	-	unknown	RB1_01725	somatic	ng_un_is_tu_273	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
+/?	-	c.320_336delCAGTTGACCTAGATGAG	Deletion	3	-	p.(Ala107Aspfs*7)	-	nonsense	RB1_02098	germline	RB57	bilateral rb	germline	blood	DNA	-	familial	Malaysia:Kuala Lumpur	1	unpublished	-
?/?	g.39512_39513del	c.331_332del	Deletion	3_ex	-	p.(Asp111*)	-	unknown	RB1_02029	germline	P_20140723_70	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.39515G>T	c.334G>T	substitution	03_ex	-	p.Glu112X	-	nonsense	RB1_00343	somatic	E1984	bilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39515G>T	c.334G>T	substitution	03_ex	-	p.Glu112X	-	nonsense	RB1_00343	somatic	SBC-1	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM23827	1	published	-
?/+	g.39516_39520del	c.335_339del	deletion	03_ex	-	p.Glu112Valfs*6	-	frameshift	RB1_00042	somatic	E603T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.39516_39520del	c.335_339del	deletion	03_ex	-	p.Glu112Valfs*6	-	frameshift	RB1_00042	somatic	Fam614	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.39517_39521del	c.336_340del	Deletion	03_ex	-	p.Glu112Aspfs*6	-	frameshift	RB1_01523	somatic	S82790	retinoblastoma	somatic	nd	DNA	-	-	Lohmann et al, 1997, (COSM898)	1	published	-
?/?	g.39518insT	c.337insT	Insertion	03_ex	-	-	-	frameshift	RB1_01595	germline	bilateral_35	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.39518_g.39522delATGTC	c.337_341delATGTC	Deletion	03_ex	-	-	-	frameshift	RB1_01596	germline	bilateral_40	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow	1	unpublished	-
?/+	g.39519dup	c.338dup	insertion	03_ex	-	-	-	frameshift	RB1_00651	-	Fam551	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.39522C>A	c.341C>A	substitution	03_ex	-	p.Ser114X	-	nonsense	RB1_00717	-	Yu45	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	-	Choy et al. (2002) Hum Mutat 20(5): 408.	1	published	COSM877
?/+	g.39523_39526del	c.342_345del	deletion	03_ex	-	fs	-	frameshift	RB1_00342	somatic	E2452	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39527_39530del	c.346_349del	Deletion	03_ex	-	p.Thr116Leufs*8	-	frameshift	RB1_01524	somatic	SF539	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM18661	1	-	-
+/?	g.39532delT	c.351del	Deletion	3	-	p.Phe117Leufs*8	-	frameshift	RB1_01421	unknown	IRB5	bilateral rb	somatic	Retinoblastoma Tumor	DNA	heterozygous	-	Iran:Tehran	1	-	-
?/?	g.39533del	c.352del	Deletion	3_ex	-	p.(Thr118Leufs*7)	-	unknown	RB1_02030	germline	P_20140723_72	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.39536G>T	c.355G>T	substitution	03_ex	-	p.Glu119X	-	nonsense	RB1_01134	germline	E3909	-	germline	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.39538insACTTT	c.357_358insACTTT	insertion	03_ex	-	p.Leu120Thrfs*7	-	frameshift	RB1_00043	unknown	E1	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.39542C>T	c.361C>T	substitution	03_ex	-	p.Gln121X	-	nonsense	RB1_00440	unknown	E3221	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39548A>G	c.367A>G	substitution	03_ex	-	p.Asn123Asp	Asn123Asp	unknown	RB1_01372	-	Caov-4	other cancer	somatic	ovarian carcinoma cell li	DNA	-	-	Yaginuma et al, 1997	1	published	ovarian cancer
?/+	g.39549del	c.368del	deletion	03_ex	-	p.Asn123Thrfs*2	-	frameshift	RB1_00349	unknown	E701	bilateral rb	-	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.39549dup	c.368dup	insertion	03_ex	-	p.Asn123Lysfs*8	-	frameshift	RB1_00044	unknown	RB455	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/?	g.39545dup	c.368dup	Duplication	03_ex	-	p.Asn123Lysfs*8	-	frameshift	RB1_01525	unknown	rs67045046	-	unknown	nd	DNA	-	-	dbSNP	1	-	-
?/+	g.39551_39552del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00045	unknown	G1166	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.39551_39552del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00026	unknown	RBF64	bilateral rb	germline	blood	DNA	not reported	familial	Onadim et al., 1993	1	published	-
?/+	g.39552_39553del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00711	unknown	not provided	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.39552_39553del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00711	unknown	not provided	bilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.39551_39552del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00045	unknown	R9	bilateral rb	germline	blood	DNA	-	isolated	Bamme et al. (2005) Genet Test. 3 (9):200-211	1	published	-
?/+	g.39552_39553del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00711	unknown	RB-71	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/?	g.39552_39553del	c.371_372del	deletion	03_ex	-	p.Ile124Argfs*6	-	frameshift	RB1_00711	germline	RB4	bilateral rb	germline	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	-	-
?/+	g.39554G>T	c.373G>T	substitution	03_ex	-	p.Glu125X	-	nonsense	RB1_01135	somatic	E4068	unilateral rb	somatic	nd	DNA	heterozygous	not reported	Lohmann - Essen	1	unpublished	-
?/?	g.39558T>G	c.377T>G	substitution	03_ex	-	p.Ile126Ser	Ile126Ser	missense	RB1_00718	-	Rb2	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	-	Choy et al. (2002) Hum Mutat 20(5): 408.	1	published	-
?/?	g.39561G>A	c.380G>A	substitution	03_ex	altered splicing	p.Ser127Asn	Ser127Asn	splice	RB1_00464	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.39561G>A	c.380G>A	substitution	03_ex	altered splicing	p.Ser127Asn	Ser127Asn	splice	RB1_00464	-	not provided	-	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39561G>A	c.380G>A	substitution	03_ex	altered splicing	p.Ser127Asn	Ser127Asn	splice	RB1_00464	-	2	-	-	blood	DNA	-	-	-	1	unpublished	Hispanic patient
?/?	g.39561G>A	c.380G>A	substitution	03_ex	altered splicing	p.Ser127Asn	Ser127Asn	splice	RB1_00464	-	7	bilateral rb	-	blood	DNA	-	-	-	1	unpublished	Caucasian/Hispanic
?/?	g.39561G>A	c.380G>A	substitution	03_ex	altered splicing	p.Ser127Asn	Ser127Asn	splice	RB1_00464	-	1516	unilateral rb	-	nd	DNA	-	-	-	1	-	Tumor has hetero methylation of the promoter and hetero c.380G>A at last base of exon 3; reduces splice score from 81 to 69. Blood N.
?/?	g.39561G>C	c.380G>C	substitution	03_ex	altered splicing	-	-	splice	RB1_00325	-	E1997	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39561G>C	c.380G>C	substitution	03_ex	altered splicing	-	-	splice	RB1_00325	-	5	bilateral rb	-	retinoblastoma	DNA	-	-	Van Orsouw et al. (1996) Hum Mol Genet 5: 755	1	published	-
?/+	g.39561G>T	c.380G>T	Substitution	03_ex	-	p.Ser127Ile	-	splice	RB1_01568	somatic	NCI-H1734	other cancer	somatic	lung	DNA	-	-	COSMIC - COSM22918	1	published	-
?/?	g.39562del	c.380+1del	deletion	03_in	altered splicing	-	-	splice	RB1_00411	somatic	E2940	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39562G>A	c.380+1G>A	substitution	03_in	altered splicing	-	-	splice	RB1_00188	-	E513	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/?	g.39562G>A	c.380+1G>A	substitution	03_in	altered splicing	-	-	splice	RB1_00188	-	not provided	bilateral rb	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.39562G>A	c.380+1G>A	substitution	03_in	altered splicing	-	-	splice	RB1_00188	somatic	380	other cancer	somatic	lung	DNA	-	-	COSMIC - COSM29771	1	published	-
?/?	g.39562G>A	c.380+1G>A	substitution	03_in	altered splicing	-	-	splice	RB1_00188	germline	#2	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/?	g.39562G>T	c.380+1G>T	substitution	03_in	altered splicing	-	-	splice	RB1_00187	-	E641	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/?	g.39562G>T	c.380+1G>T	substitution	03_in	altered splicing	-	-	splice	RB1_00187	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.39562G>T	c.380+1G>T	substitution	03_in	altered splicing	-	-	splice	RB1_00187	-	RB-15	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/?	g.39564A>C	c.380+3A>C	substitution	03_in	altered splicing	-	-	splice	RB1_01253	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
?/?	g.39564A>T	c.380+3A>T	substitution	03_in	altered splicing	-	-	splice	RB1_00915	-	Fam896	bilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.39564A>T	c.380+3A>T	substitution	03_in	altered splicing	-	-	splice	RB1_00915	-	T15	bilateral rb	germline	blood	DNA	-	-	Zhang et al. (2008) Hum Mutat 29: 475	1	published	-
?/?	g.39571C>G	c.380+10C>G	substitution	03_in	-	variant	-	variant	RB1_01006	-	G1092	no cancer	-	blood	DNA	-	-	Lohmann et al., 1996	1	published	-
?/?	g.39573T>C	c.380+12T>C	substitution	03_in	-	variant	-	variant	RB1_01007	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/?	g.39573T>C	c.380+12T>C	substitution	03_in	-	variant	-	variant	RB1_01007	-	not provided	no cancer	germline	blood	DNA	-	-	dbSNP	1	published	originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/?	g.39578_39579del	c.380+17_380+18del	deletion	03_in	-	variant	-	variant	RB1_01008	-	not provided	no cancer	-	blood	DNA	-	-	dbSNP	1	published	originally reported: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/?	g.39596T>G	c.380+35T>G	substitution	03_in	-	variant	-	variant	RB1_00515	unknown	not provided	rb	germline	blood	DNA	-	familial	Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5.	1	published	-
?/?	g.39598A>G	c.380+37A>G	substitution	03_in	-	variant	-	variant	RB1_01009	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/?	g.39598A>G	c.380+37A>G	substitution	03_in	-	variant	-	variant	RB1_01009	-	not provided	no cancer	-	nd	DNA	-	-	Mateu et al., 1997	1	published	-
?/?	g.39606C>T	c.380+45C>T	substitution	03_in	-	variant	-	variant	RB1_00987	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/?	g.39606C>T	c.380+45C>T	substitution	03_in	-	variant	-	variant	RB1_00987	-	not provided	no cancer	-	blood	DNA	-	-	Mateu et al., 1997	1	published	-
?/?	g.39606C>T	c.380+45C>T	substitution	03_in	-	variant	-	variant	RB1_00987	-	not provided	no cancer	germline	blood	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.41739A>G	c.381-187A>G	substitution	03_in	-	variant	-	variant	RB1_01097	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.41774A>G	c.381-152A>G	substitution	03_in	-	variant	-	variant	RB1_01010	-	not provided	no cancer	germline	blood	DNA	-	-	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/?	g.41774A>G	c.381-152A>G	substitution	03_in	-	variant	-	variant	RB1_01010	-	not provided	-	unknown	nd	DNA	unknown	unknown	dbSNP	1	-	-
?/?	g.41843delA	c.381-83delA	Deletion	03_in	-	-	-	unknown	RB1_01827	unknown	rs68077042	no cancer	unknown	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.41849delA	c.381-77delA	Substitution	03_in	-	-	-	unknown	RB1_01828	unknown	rs67822274	no cancer	unknown	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.41868G>A	c.381-58G>A	substitution	03_in	-	variant	-	variant	RB1_01098	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
+?/+?	g.41887_41924del	c.381-39_381-2del	Deletion	in_03	-	-	-	splice	RB1_01953	germline	E6342	unilateral rb	germline	blood and tumor	DNA	LOH	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.41924A>C	c.381-2A>C	substitution	03_in	altered splicing	-	-	splice	RB1_00485	-	RB66	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/?	g.41924A>G	c.381-2A>G	substitution	03_in	altered splicing	-	-	splice	RB1_01327	-	31	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/?	g.41924A>G	c.381-2A>G	substitution	03_in	altered splicing	-	-	splice	RB1_01327	-	14 011	bilateral rb	unknown	nd	DNA	unknown	unknown	Munier - Lausanne	1	-	Two brothers were tested, mutation was not found here
?/?	g.41925G>C	c.381-1G>C	substitution	03_in	altered splicing	-	-	splice	RB1_01254	-	234/97	bilateral rb	germline	blood	DNA	-	isolated	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/+	g.41927_41928del	c.382_383del	deletion	04_ex	-	p.Val128Profs*2	-	frameshift	RB1_00046	unknown	TS53	bilateral rb	germline	blood	DNA	not reported	isolated	Liu et al., 1995	1	published	-
?/?	g.41930C>T	c.385C>T	Substitution	04_ex	-	p.His129Tyr	-	missense	RB1_01413	-	SH-1	bilateral rb	-	nd	DNA	-	-	-	1	-	Mutation was absent in peripheral blood from both parents
?/?	g.41931_41933delinsTT	c.386_388delinsTT	Insertion/Deletion	4_ex	-	p.(His129Leufs*7)	-	frameshift	RB1_02031	germline	P_20140723_80	unilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.41933del	c.388del	deletion	04_ex	-	-	-	frameshift	RB1_00961	-	Fam705	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
+/?	-	c.390del	Deletion	4	-	p.(Lys130Asnfs*6)	-	nonsense	RB1_02100	germline	RB42	unilateral rb	germline	blood	DNA	-	isolated	Malaysia:Kuala Lumpur	1	unpublished	-
?/?	g.41937del	c.392del	deletion	04_ex	-	-	-	-	RB1_01212	-	not provided	rb	germline	blood	DNA	-	-	Zhang et al. (1997) Yan Ke Xue Bao 13: 5	1	published	-
?/+	g.41941dup	c.396dup	insertion	04_ex	-	-	-	frameshift	RB1_01204	-	29	bilateral rb	germline	blood	DNA	-	familial	Sampieri et al. (2006) J Hum Genet 51: 209	1	published	-
?/?	g.41942A>C	c.397A>C	substitution	04_ex	-	variant	Asn133His	variant	RB1_01011	-	not provided	no cancer	germline	blood	DNA	-	-	dbSNP	1	published	published in: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/?	g.41945_41952del	c.400_407Adel	Insertion/Deletion	04_ex	-	-	-	unknown	RB1_01505	somatic	Patient 1	bilateral rb	somatic	tumor	DNA	-	unknown	Kumaramanickavel et al. (2003), J Genet.82(1-2):39-44.	1	published	Pat. had additional deletion of 13q14 in peripheral blood
?/+	g.41946del	c.401del	deletion	04_ex	-	p.Leu134Tyrfs*2	-	frameshift	RB1_00409	somatic	E2841	unilateral rb	somatic	tumor	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
+/+	g.41946	c.401T>A	Substitution	04_ex	-	p.(Leu134*)	-	nonsense	RB1_01860	germline	E6120	bilateral rb	germline	blood	DNA	unknown	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/+	g.41946_41949del	c.401_404del	deletion	04_ex	-	p.(Leu134*)	-	frameshift	RB1_00047	unknown	GOS561	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	COSM937
?/+	g.41946_41949del	c.401_404del	deletion	04_ex	-	p.(Leu134*)	-	frameshift	RB1_00047	unknown	G821	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1994	1	published	-
?/+	g.41946_41949del	c.401_404del	deletion	04_ex	-	p.(Leu134*)	-	frameshift	RB1_00047	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.41946_41947dup	c.403_402dup	insertion	04_ex	-	p.Leu135X	-	frameshift	RB1_00410	somatic	E2877	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.41948insA	c.403_404insA	insertion	04_ex	-	-	-	-	RB1_00898	-	Fam537	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.41950_41991delinsGTTA	c.405_446delinsGTTA	Insertion/Deletion	4_ex	-	p.(Lys136Leufs*8)	-	frameshift	RB1_02032	germline	P_20140723_82	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.41951A>T	c.406A>T	substitution	04_ex	-	p.Lys136X	-	nonsense	RB1_00048	-	E29T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.41954G>T	c.409G>T	substitution	04_ex	-	p.Glu137X	-	nonsense	RB1_00049	-	E496T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.41954G>T	c.409G>T	substitution	04_ex	-	p.Glu137X	-	nonsense	RB1_00049	-	E552T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	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)