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.64369_64423dup	c.979_1033dup	insertion	10_ex	-	p.Thr345Lysfs*3	-	frameshift	RB1_00075	unknown	RB538	bilateral rb	germline	retinoblastoma	DNA	hemi/homozygous	isolated	Dunn et al., 1989	1	published	-
?/+	g.64369_64423dup	c.979_1033dup	insertion	10_ex	-	p.Thr345Lysfs*3	-	frameshift	RB1_00075	unknown	Fam88	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	unpublished	-
?/?	g.64372A>C	c.982A>C	Substitution	10_ex	-	-	-	missense	RB1_01504	somatic	Rb19	unilateral rb	somatic	tumor	DNA	-	isolated	Ata-ur-Rasheed et al. (2002) Ophthalmic Genet.(2):121-8.	1	published	-
?/+	g.64372_64373del	c.982_983del	deletion	10_ex	-	-	-	frameshift	RB1_00459	somatic	E2857	bilateral rb	somatic	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.64373dupA	c.983dupA	Duplication	10_ex	-	p.(Asn328Lysfs*2)	-	frameshift	RB1_01917	unknown	Supp_Tab_Mt-44	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.64375A>T	c.985A>T	Substitution	10_ex	-	g.Lys329X	-	nonsense	RB1_01708	somatic	ng_un_is_tu_203	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.64377del	c.987del	deletion	10_ex	-	p. Asp330Ilefs*2	-	frameshift	RB1_00255	unknown	#26	bilateral rb	somatic	blood	DNA	not reported	-	Sippel et al., 1998	1	published	-
?/+	g.64384del	c.994del	deletion	10_ex	-	p.Asp332Metfs*17	-	frameshift	RB1_00368	unknown	E2363	-	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.64384del	c.994del + c.1147dup	deletion	10_ex	-	p.Asp332Metfs*17	-	frameshift	RB1_00368	germline	E2336	bilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	new germline mutation
?/?	g.64390del	c.1000del	Deletion	10_ex	-	p.(Arg334Aspfs*15)	-	frameshift	RB1_02060	germline	P_20140723_167	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.64394T>A	c.1004T>A	substitution	10_ex	-	p.Leu335X	-	nonsense	RB1_00225	-	E900	unilateral rb	germline	nd	DNA	heterozygous	familial	Lohmann - Essen	1	unpublished	founder
?/+	g.64395del	c.1005del	deletion	10_ex	-	p.Leu335Phefs*14	-	frameshift	RB1_00365	germline	E2535	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.64400delT	c.1010delT	Deletion	10_ex	-	-	-	frameshift	RB1_01618	germline	bilateral_171	bilateral rb	germline	blood	DNA	-	unknown	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	Fam history possibly positive
?/?	g.64400dupT	c.1010dupT	Duplication	10_ex	-	p.(Leu337Phefs*4)	-	frameshift	RB1_01918	unknown	Supp_Tab_Mt-45	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.64402del	c.1012del	deletion	10_ex	-	-	-	-	RB1_01220	-	fRB54	bilateral rb	germline	blood	DNA	-	isolated	Najera et al. (2001) Med Clin (Barc) 116: 365	1	published	-
?/+	g.64407del	c.1017del	deletion	10_ex	-	p.His339Glnfs*10	-	frameshift	RB1_01378	unknown	F3; pt# 5	bilateral retinoma	germline	blood	DNA	-	familial	Abouzeid et al. (2009), Mol Vis.;15:771-7	1	published	-
?/?	g.64407del	c.1017del	deletion	10_ex	-	p.His339Glnfs*10	-	frameshift	RB1_01378	unknown	4561	bilateral rb	unknown	nd	DNA	unknown	familial	Munier - Lausanne	1	-	-
?/?	g.64407_64429del	c.1017_1039del	Deletion	10_ex	-	p.Asp340Tyrfs*5	-	unknown	RB1_01545	somatic	16875	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM48966, Ding et al., 2008	1	published	-
?/?	g.64411A>T	c.1021A>T	Substitution	10_ex	-	p.Lys341X	-	nonsense	RB1_01617	germline	bilateral_161	bilateral rb	germline	blood	DNA	-	unknown	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.64413_64414del	c.1023_1024del	deletion	10_ex	-	p.Lys341Asnfs*5	-	frameshift	RB1_00430	somatic	E1621	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.64414del	c.1024del	deletion	10_ex	-	p.Thr342Leufs*7	-	frameshift	RB1_00497	unknown	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.64414del	c.1024del	deletion	10_ex	-	p.Thr342Leufs*7	-	frameshift	RB1_00497	unknown	F3031	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.64417_64418del	c.1027_1028del	deletion	10_ex	-	p.(Leu343Serfs*3)	-	frameshift	RB1_00754	unknown	5b	bilateral rb	germline	blood	DNA	-	familial	-	1	published	-
?/+	g.64417_64418del	c.1027_1028del	deletion	10_ex	-	p.(Leu343Serfs*3)	-	frameshift	RB1_00754	unknown	5b	rb	germline	nd	DNA	-	familial	JL Gala - Brussels	1	unpublished	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	not provided	-	-	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	Fam214	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	-	E5361	bilateral rb	germline	blood	DNA	unknown	isolated	Germany:Essen	1	unpublished	-
?/?	g.64420C>T	c.1030C>T	substitution	10_ex	-	p.Gln344X	-	nonsense	RB1_00222	somatic	NCI-H720	other cancer	somatic	nd	DNA	-	-	COSMIC -COSM13142	1	published	-
?/?	g.64429_64442del	c.1039_1049+3del	deletion	10_ex	altered splicing	-	-	splice	RB1_00076	-	TS28	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/?	g.64429_64442del	c.1039_1049+3del	deletion	10_ex	altered splicing	-	-	splice	RB1_00076	-	TS29	rb	germline	blood	DNA	not reported	familial	Liu et al., 1995	1	published	-
?/?	g.64441del	c.1049del	deletion	10_in	altered splicing	-	-	splice	RB1_01221	-	not provided	rb	germline	blood	DNA	-	-	Houdayer et al. (2008) Hum Mutat 29: 975	1	published	-
?/?	g.64439G>T	c.1049G>T	Substitution	10_ex	altered splicing	p.Ser350Iso	Ser350Iso	unknown	RB1_01450	-	1021	bilateral rb	-	tumor and blood	DNA	-	-	-	1	unpublished	heterozygous in tumor and blood; last base of exon 10; reduces splice score from 72 to 59; expected to cause mis-splicing of exon 10
?/?	g.64440G>T	c.1049+1G>T	substitution	10_in	altered splicing	-	-	splice	RB1_00007	-	RB-119	unilateral rb	somatic	retinoblastoma	DNA	-	-	Yandell et al., 1989	1	published	-
?/?	g.64441T>A	c.1049+2T>A	Substitution	10_in	altered splicing	-	-	unknown	RB1_01477	somatic	rs41287453	-	-	tumor	DNA	-	-	dbSNP	1	published	-
?/?	g.64441T>C	c.1049+2T>C	substitution	10_in	altered splicing	-	-	splice	RB1_00712	-	E3896	-	germline	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/?	g.64441T>C	c.1049+2T>C	substitution	10_in	altered splicing	-	-	splice	RB1_00712	-	SRT04	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Kontic et al. (2006) J Hum Genet 51: 909	1	published	-
?/?	g.64442A>G	c.1049+3A>G	substitution	10_in	altered splicing	-	-	splice	RB1_01258	-	T5	bilateral rb	germline	blood	DNA	-	-	Zhang et al. (2008) HumMutat 29: 475	1	published	-
?/?	g.64497G>A	c.1049+58G>A	substitution	10_in	-	variant	-	variant	RB1_01031	-	not provided	no cancer	germline	blood	DNA	-	-	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/?	g.64497G>C	c.1049+58G>C	substitution	10_in	-	variant	-	variant	RB1_01032	-	not provided	no cancer	-	nd	DNA	-	-	Lohmann - Essen	1	published	-
?/?	g.65307A>C	c.1050-57A>C	substitution	10_in	-	variant	-	variant	RB1_01033	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/?	g.65307A>C	c.1050-57A>C	substitution	10_in	-	variant	-	variant	RB1_01033	-	not provided	no cancer	germline	blood	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/?	g.65361delT	c.1050-3delT	Deletion	10_in	splice_accpetor	-	-	splice	RB1_01884	unknown	Supp_Tab_Mt-46	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
+/+	g.65361_65363delinsAA	c.1050-3_1050-1delinsAA	Other/Complex	10_in	-	-	-	unknown	RB1_01853	germline	E5967	bilateral rb	germline	blood	DNA	unknown	familial	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.65362A>G	c.1050-2A>G	substitution	10_in	altered splicing	-	-	splice	RB1_00196	-	RB266	bilateral rb	germline	retinoblastoma	DNA	hemi/homozygous	isolated	Shimizu et al., 1994	1	published	-
?/?	g.65362A>G	c.1050-2A>G	substitution	10_in	altered splicing	-	-	splice	RB1_00196	-	not provided	-	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.65363G>C	c.1050-1G>C	substitution	10_in	altered splicing	-	-	splice	RB1_00442	somatic	E3187	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.65363G>C	c.1050-1G>C	substitution	10_in	altered splicing	-	-	splice	RB1_00442	germline	#721	bilateral rb	germline	blood	DNA	unknown	isolated	Renieri- Siena	1	unpublished	-
?/?	g.65273G>A	c.1050G>A	substitution	10_in	-	-	-	-	RB1_00073	-	HCC11C	other tumor	germline	Hepatocellular Carcinoma	DNA	not reported	-	Zhang et al., 1994	1	published	-
+/?	-	c.1050-1G>A	Substitution	11	r.1216_1228del	p.Ser350Argfs*13	-	frameshift	RB1_02103	germline	FC15316	unilateral rb	germline	peripheral blood	RNA	-	isolated	Australia:Adelaide	1	unpublished	-
?/?	g.65366T>G	c.1052T>G	substitution	11_ex	-	p.Phe351Cys	-	missense	RB1_00797	-	Fam177	bilateral rb	germline	nd	DNA	-	not reported	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	unpublished	-
?/?	g.65368G>T	c.1054G>T	Substitution	11_ex	-	p.(Glu352*)	-	nonsense	RB1_01941	unknown	Supp_Tab_Mt-47	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.65371_65375dup	c.1057_1061dup	insertion	11_ex	-	p.Arg355Hisfs*14	-	frameshift	RB1_00298	somatic	E1859	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65374C>T	c.1060C>T	substitution	11_ex	-	p.Gln354X	-	nonsense	RB1_00077	-	G365	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.65374C>T	c.1060C>T	substitution	11_ex	-	p.Gln354X	-	nonsense	RB1_00077	-	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65371_65372del	c.1060_1061del	deletion	11_ex	-	p.(Gln354Glufs*7)	-	frameshift	RB1_00798	unknown	Fam421	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65374_65375del	c.1060_1061del	deletion	11_ex	-	p.(Gln354Glufs*7)	-	frameshift	RB1_01315	unknown	CO270	bilateral rb	germline	blood	DNA	-	not reported	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/?	g.65375dupA	c.1061dupA	Duplication	11_ex	-	p.(Arg355Glufs*7)	-	unknown	RB1_01919	unknown	Supp_Tab_Mt-48	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.65378_65377del	c.1064_1065del	deletion	11_ex	-	p.Arg355Asnfs*6	-	frameshift	RB1_00697	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.65377_65378del	c.1064_1065del	deletion	11_ex	-	p.Arg355Asnfs*6	-	frameshift	RB1_00334	unknown	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65377_65378del	c.1064_1065del	deletion	11_ex	-	p.Arg355Asnfs*6	-	frameshift	RB1_00334	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65378_65377del	c.1064_1065del	deletion	11_ex	-	p.Arg355Asnfs*6	-	frameshift	RB1_00697	unknown	T4	unilateral rb	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/?	g.65386C>G	c.1072C>G	substitution	11_ex	-	p.Arg358Gly	-	-	RB1_01320	-	25	bilateral rb	-	retinoblastoma	DNA	-	-	Van Orsouw et al. (1996) Hum Mol Genet 5: 755	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	RB398	unilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	GOS159	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	TS3	bilateral rb	germline	blood	DNA	not reported	isolated	Liu et al., 1995	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E672T	bilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G94	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G434	rb	germline	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G486	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G823	rb	germline	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	RB-W24	-	-	blood	DNA	not reported	-	Yandell et al., 1989	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E572	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E952T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	2	unilateral rb	germline	blood	DNA	not reported	isolated	Zajaczek et al., 1998	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam224	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam332	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam411	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam557	bilateral rb	germline	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam599	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Yu54	unilateral rb	germline	blood	DNA	-	-	Choy et al. (2002) Hum Mutat 20(5): 408.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	JA333	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Rb79	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E2201	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E3404	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E1394	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E85	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E3241	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E4725	bilateral rb	germline	nd	DNA	unknown	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E1399	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-

1101 - 1200
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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)