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.70330G>T	c.1215+1G>T	Substitution	12_in	altered splicing	-	-	unknown	RB1_01479	somatic	NCI-H2107	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM29786	1	published	-
+/?	-	c.1215+4del	Deletion	12_in	-	-	-	splice	RB1_01976	germline	fam-no_20060102	retinoblastoma	germline	blood	DNA	unknown	isolated	Dommering et al. 2014, Germany:Essen	1	published	No RNA available Predicted: close to the donor splice site of exon 12, leading to skip of exon 12
?/?	g.70392T>G	c.1215+63T>G	Substitution	12_in	splice_donor	-	-	splice	RB1_01886	unknown	Supp_Tab_Mt-54	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.70436A>G	c.1215+107A>G	substitution	12_in	-	variant	-	variant	RB1_01105	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.73595T>C	c.1216-158T>C	substitution	12_in	-	variant	-	variant	RB1_01106	-	not provided	no cancer	-	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.73724A>G	c.1216-29A>G	Substitution	12_in	-	-	-	unknown	RB1_01839	somatic	rs3092886	no cancer	somatic	nd	DNA	-	-	dbSNP	1	published	-
?/?	g.73752G>A	c.1216-1G>A	Substitution	12_in	Essential splice site	-	-	unknown	RB1_01481	somatic	COR-L88	other cancer	somatic	tumor	DNA	-	-	COSMIC - COSM14211	1	published	-
?/?	g.73752G>C	c.1216-1G>C	Substitution	12_in	Essential splice site	-	-	unknown	RB1_01482	somatic	TCGA-25-1635	other cancer	germline	tumor	DNA	-	-	COSMIC - COSM69449	1	published	-
?/?	g.70330G>C	c.1216+1G>C	substitution	12_in	altered splicing	-	-	splice	RB1_00199	-	E487	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/?	g.70330G>C	c.1216+1G>C	substitution	12_in	altered splicing	-	-	splice	RB1_00199	-	RB-65	bilateral rb	germline	blood	DNA	-	familial	-	1	published	-
?/?	g.70331dup	c.1216+2dup	insertion	12_in	altered splicing	-	-	splice	RB1_00916	-	Fam329	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.70331T>C	c.1216+2T>C	substitution	12_in	altered splicing	-	-	splice	RB1_01133	germline	E3841	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.70331+3insT	c.1216+3insT	Insertion	12_in	splice	-	-	splice	RB1_01721	somatic	ng_un_is_tu_259	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.70358G>A	c.1216+29G>A	substitution	12_in	-	variant	-	variant	RB1_01039	-	not provided	no cancer	-	nd	DNA	-	-	Blanquet et al., 1993	1	published	-
?/?	g.71269G>A	c.1216+940G>A	substitution	12_in	-	variant	-	variant	RB1_01079	-	not provided	no cancer	-	nd	DNA	-	-	-	1	published	-
?/?	g.71269G>A	c.1216+940G>A	substitution	12_in	-	variant	-	variant	RB1_01079	-	not provided	-	unknown	nd	DNA	unknown	unknown	dbSNP	1	-	-
?/?	g.73724A>G	c.1217-29A>G	substitution	12_in	-	variant	-	variant	RB1_00581	-	8b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/?	g.73724A>G	c.1217-29A>G	substitution	12_in	-	variant	-	variant	RB1_01040	-	not provided	no cancer	germline	blood	DNA	-	-	Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409.	1	published	-
?/?	g.73750A>G	c.1217-3A>G	substitution	12_in	-	intron inclusion 2bp	-	splice new acceptor	RB1_00769	-	010-URB	unilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.73751A>G	c.1217-2A>G	substitution	12_in	altered splicing	-	-	splice	RB1_00197	-	G902	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/?	g.73752G>A	c.1217-1G>A	substitution	12_in	altered splicing	-	-	splice	RB1_00198	-	E699	unilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/?	g.73752G>A	c.1217-1G>A	substitution	12_in	altered splicing	-	-	splice	RB1_00198	-	RB73	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/?	g.73752G>T	c.1217-1G>T	substitution	12_in	altered splicing	-	-	splice	RB1_00918	-	Fam780	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.73752G>T	c.1217-1G>T	substitution	12_in	altered splicing	-	-	splice	RB1_00918	unknown	Supp_Tab_Mt-55	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.73751_73754dup	c.1216-2_1217dup	insertion	13_ex	-	-	-	frameshift	RB1_01153	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	-	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.73751_73754dup	c.1216-2_1217dup	insertion	13_ex	-	-	-	frameshift	RB1_01153	-	T42	unilateral rb	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/+	g.73753_73774del	c.1218_1239del	deletion	13_ex	-	p.Asn406Lysfs*4	-	frameshift	RB1_00087	unknown	GOS13	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.73759del	c.1222del	deletion	13_ex	-	p.Thr408Glnfs*2	-	frameshift	RB1_00374	somatic	E178	bilateral rb	somatic	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73765_73766del	c.1228_1229del	deletion	13_ex	-	-	-	frameshift	RB1_00713	germline	E3957	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.73767_73768delinsGG	c.1230_1231delinsGG	complex	13_ex	-	-	-	-	RB1_01314	-	R14	unilateral rb	somatic	blood	DNA	-	isolated	Bamme et al. (2005) Genet Test. 3 (9):200-211	1	published	-
?/+	g.73770_73785del	c.1233_1248del	deletion	13_ex	-	p.(Ser414*)	-	frameshift	RB1_00301	germline	E1959	bilateral rb	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/?	g.73772_73773del	c.1235_1236del	Deletion	13_ex	-	p.(Lys412Argfs*15)	-	frameshift	RB1_02063	germline	P_20140723_211	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
?/+	g.73772_73773delinsC	c.1235_1236delinsC	complex	13_ex	-	p.Lys412Thrfs*5	-	frameshift	RB1_00707	unknown	not provided	bilateral rb	germline	blood	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.73772_73773delinsC	c.1235_1236delinsC	complex	13_ex	-	p.Lys412Thrfs*5	-	frameshift	RB1_00707	unknown	T12	bilateral rb	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/+	g.73773del	c.1236del	deletion	13_ex	-	p.Glu413Lysfs*4	-	frameshift	RB1_00088	unknown	RB226	unilateral rb	somatic	retinoblastoma	DNA	hemi/homozygous	-	Shimizu et al., 1994	1	published	-
?/+	g.73773del	c.1236del	deletion	13_ex	-	p.Glu413Lysfs*4	-	frameshift	RB1_00088	unknown	not provided	unilateral rb	germline	blood	DNA	-	-	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.73773del	c.1236del	deletion	13_ex	-	p.Glu413Lysfs*4	-	frameshift	RB1_00088	unknown	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.73774del	c.1237del	deletion	13_ex	-	p.Glu413Lysfs*4	-	frameshift	RB1_00090	unknown	G452	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1994	1	published	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	G1032	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	not provided	bilateral rb	germline	blood	DNA	-	familial	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	not provided	-	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	not provided	-	germline	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.73774G>T	c.1237G>T	substitution	13_ex	-	p.Glu413X	-	nonsense	RB1_00089	-	RB-58	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.73777del	c.1240del	deletion	13_ex	-	p.Ser414Valfs*3	-	frameshift	RB1_00311	unknown	E1576	bilateral rb	-	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73779insG	c.1242_1243insG	insertion	13_ex	-	p.Ile415Aspfs*13	-	frameshift	RB1_00520	unknown	Yu55	bilateral rb	germline	blood	DNA	-	-	Choy et al. (2002) Hum Mutat 20(5): 408.	1	published	-
?/?	g.73783delC	c.1246delC	Deletion	13_ex	-	-	-	frameshift	RB1_01714	somatic	ng_un_is_tu_226	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.73784del	c.1247del	deletion	13_ex	-	p.(Leu416Argfs*4)	-	frameshift	RB1_00462	germline	E3481	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73784dup	c.1247dup	insertion	13_ex	-	-	-	frameshift	RB1_00811	-	Fam664	bilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
+/+	g.73785_73788delinsTC	c.1248_1251delinsTC	Insertion/Deletion	13_ex	-	p.(Lys417Glnfs*10)	-	frameshift	RB1_02006	germline	E6478	bilateral rb	germline	blood	DNA	unknown	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/?	g.73786A>T	c.1249A>T	Substitution	13_ex	-	p.Lys417X	-	unknown	RB1_01724	somatic	ng_un_is_tu_273	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.73788_73789del	c.1251_1252del	deletion	13_ex	-	p.Arg418Serfs*9	-	unknown	RB1_01223	unknown	36	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/?	g.73789delA	c.1252del	Substitution	13_ex	-	p.Arg418Glufs*2	-	unknown	RB1_01549	somatic	NCI-H128	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM18092	1	published	-
?/+	g.73789dup	c.1252dup	insertion	13_ex	-	p.Arg418Lysfs*10	-	frameshift	RB1_01206	unknown	CO293	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/+	g.73799del	c.1262del	deletion	13_ex	-	p.Asp421Valfs*2	-	frameshift	RB1_00091	unknown	RB403	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1995	1	published	-
?/?	g.73799_73801delinsTG	c.1262_1264delinsTG	complex	13_ex	-	-	-	-	RB1_01200	-	F4730	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.73801dup	c.1264dup	insertion	13_ex	-	p.Ile422Asnfs*6	-	frameshift	RB1_00092	unknown	RBF58	bilateral rb	germline	blood	DNA	not reported	familial	Onadim et al., 1993	1	published	-
?/+	g.73804G>T	c.1267G>T	substitution	13_ex	-	p.Gly423X	-	nonsense	RB1_01155	-	not provided	unilateral	somatic	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.73804G>T	c.1267G>T	substitution	13_ex	-	p.Gly423X	-	nonsense	RB1_01155	-	T2	unilateral rb	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/+	g.g.73805del	c.1268del	deletion	13_ex	-	p.Gly423Aspfs*34	-	frameshift	RB1_01360	unknown	RB-64	bilateral rb	germline	blood	DNA	-	-	-	1	published	-
?/?	g.73805dupG	c.1268dup	Duplication	13_ex	-	p.Tyr424Ilefs*4	-	frameshift	RB1_01550	somatic	IST-SL2	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM25238	1	published	-
?/?	g.73809C>A	c.1272C>A	Substitution	13_ex	-	p.Tyr424X	-	nonsense	RB1_01511	somatic	TCGA-02-0079	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM42749, Cancer Genome Atlas Research Network 2008	1	published	-
?/?	g.70809_703818dup10	c.1272_1281dup10	Duplication	13_ex	-	p.(Glu428Hisfs*3)	-	frameshift	RB1_01923	unknown	Supp_Tab_Mt-56	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/?	g.73815del	c.1278del	Deletion	13_ex	-	p.(Phe426Leufs*31)	-	frameshift	RB1_02064	germline	P_20140723_213	bilateral rb	germline	blood	DNA	unknown	isolated	Houdayer - Paris	1	unpublished	-
+/+	g.73818del	c.1281del	Deletion	13_ex	-	p.(Glu428Argfs*29)	-	frameshift	RB1_01952	germline	E6273	bilateral rb	germline	blood	DNA	unknown	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/+	g.73819del	c.1282del	deletion	13_ex	-	p.Glu428Argfs*29	-	frameshift	RB1_00550	unknown	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/?	g.73819G>T	c.1282G>T	Substitution	13_ex	-	p.Glu428X	-	unknown	RB1_01727	somatic	ng_un_is_tu_277	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
+/+	g.73820del	c.1283del	Deletion	13_ex	-	p.Glu428Glyfs*29	-	frameshift	RB1_01719	germline	E5837	bilateral rb	germline	blood and tumor	DNA	hemi/homozygous	isolated	Lohmann, Germany:Essen	1	unpublished	-
?/+	g.73824dup	c.1287dup	insertion	13_ex	-	p.Phe430Ilefs*3	-	frameshift	RB1_00549	unknown	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.73825insA	c.1288_1289insA	insertion	13_ex	-	-	-	frameshift	RB1_01151	-	not provided	bilateral rb	germline	nd	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.73827del	c.1290del	deletion	13_ex	-	p.Phe430Leufs*27	-	frameshift	RB1_00093	unknown	E478	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.73827del	c.1290del	deletion	13_ex	-	p.Phe430Leufs*27	-	frameshift	RB1_00093	unknown	E478	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g._73829_73832dup	c.1292_1295dup	insertion	13_ex	-	p.Lys432Asnfs*2	-	frameshift	RB1_00351	germline	E1745	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.73835C>T	c.1298C>T	substitution	13_ex	-	p.Ala433Val	-	-	RB1_01193	-	176	bilateral rb	germline	blood	DNA	-	isolated	Dalamon et al. (2004) J Biochem Mol Biol 37: 246	1	published	-
?/?	g.73838_73839dup	c.1301_1302dup	Duplication	13_ex	-	p.Gly435Trpfs*23	-	frameshift	RB1_02008	somatic	#768	unilateral rb	mosaicism	blood	DNA	unknown	isolated	Renieri- Siena	1	unpublished	-
?/?	g.73842insC	c.1305insC	Insertion	13_ex	-	-	-	frameshift	RB1_01621	germline	bilateral_214	bilateral rb	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/?	g.73843C>A	c.1306C>A	Substitution	13_ex	-	p.Gln436Lys	-	unknown	RB1_01781	germline	ge_is_notu_16	no cancer	germline	blood	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.73843C>T	c.1306C>T	substitution	13_ex	-	p.Gln436X	-	nonsense	RB1_00309	-	E2122	bilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73843C>T	c.1306C>T	substitution	13_ex	-	p.Gln436X	-	nonsense	RB1_00309	-	S; pt# 9	unilateral rb/retinoma	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.73843dup	c.1306dup	insertion	13_ex	-	p.Gln436Profs*27	-	frameshift	RB1_00812	unknown	Fam116	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/?	g.73852_73853delGT	c.1315_1316delGT	Deletion	13_ex	-	p.(Val439Argfs*23)	-	frameshift	RB1_01924	unknown	Supp_Tab_Mt-57	-	-	nd	DNA	-	-	Price et al., 2013	1	published	-
?/+	g.73855G>T	c.1318G>T	substitution	13_ex	-	p.Glu440X	-	nonsense	RB1_01143	somatic	E3370	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/?	g.73855G>T	c.1318G>T	substitution	13_ex	-	p.Glu440X	-	nonsense	RB1_01143	somatic	16600	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM13479, Ding et al., 2008	1	published
?/?	g.73855G>T	c.1318G>T	substitution	13_ex	-	p.Glu440X	-	nonsense	RB1_01143	germline	RB37tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	unpublished	-
?/?	g.73856dupA	c.1319dup	Duplication	13_ex	-	p.Ile441Asnfs*22	-	frameshift	RB1_01551	unknown	rs66805009	-	-	nd	DNA	-	-	dbSNP	1	published	-
?/+	g.73858del	c.1321del	deletion	13_ex	-	-	-	frameshift	RB1_01224	-	Rb71	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/?	g.73862delG	c.1325del	Deletion	13_ex	-	p.Gly442Aspfs*15	-	unknown	RB1_01552	somatic	Br126X	other cancer	germline	nd	DNA	-	-	COSMIC - COSM39397, Parsons et al., 2008	1	published	-
?/+	g.73865C>A	c.1328C>A	substitution	13_ex	-	p.Ser443X	-	nonsense	RB1_00283	-	Fam84	bilateral rb	germline	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.73865C>A	c.1328C>A	substitution	13_ex	-	p.Ser443X	-	nonsense	RB1_00283	-	not provided	-	-	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.73865C>A	c.1328C>A	substitution	13_ex	-	p.Ser443X	-	nonsense	RB1_00283	-	not provided	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73865C>A	c.1328C>A	substitution	13_ex	-	p.Ser443X	-	nonsense	RB1_00283	-	Fam417	unilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/?	g.73865C>G	c.1328C>G	Substitution	13_ex	-	p.Ser443X	-	unknown	RB1_01726	somatic	ng_un_is_tu_276	unilateral rb	somatic	tumor	DNA	-	isolated	not reported - Diana Rushlow, Gallie:Toronto	1	unpublished	-
?/+	g.73867C>T	c.1330C>T	substitution	13_ex	-	p.Gln444X	-	nonsense	RB1_00345	-	Fam166	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.73867C>T	c.1330C>T	substitution	13_ex	-	p.Gln444X	-	nonsense	RB1_00345	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.73867C>T	c.1330C>T	substitution	13_ex	-	p.Gln444X	-	nonsense	RB1_00345	-	not provided	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73867C>T	c.1330C>T	substitution	13_ex	-	p.Gln444X	-	nonsense	RB1_00345	-	not provided	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.73867C>T	c.1330C>T	substitution	13_ex	-	p.Gln444X	-	nonsense	RB1_00345	-	Fam683	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.73867del	c.1330del	deletion	13_ex	-	p.Gln444Serfs*13	-	frameshift	RB1_00094	unknown	RB303	bilateral rb	germline	retinoblastoma	DNA	homozygous	isolated	Shimizu et al., 1994	1	published	-
?/?	g.73868A>G	c.1331A>G	substitution	13_ex	altered splicing	-	-	splice	RB1_00280	-	not provided	bilateral rb	germline inherited	blood	DNA	-	familial lp	Genuardi et al. (2001) Eur J Hum Genet 9:690-4	1	published	-
?/?	g.73868A>G	c.1331A>G	substitution	13_ex	altered splicing	-	-	splice	RB1_00280	-	RB43	rb	germline	blood	DNA	-	familial lp	Scheffer et al. (2000) J Med Genet 37:E6	1	published	loss of splice donor site exon 13 confirmed

1401 - 1500
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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)