Full database search - rb1-lsdb - Leiden Open Variation Database

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The variants below are all in the RB1 database, matching your query. 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.

62 public entries
entries per page

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.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	FM55	other cancer	somatic	melanoma cell line	DNA	heterozygous	-	Bartkova et al., 1996	1	published	melanoma
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	A.F.	bilateral rb	germline	blood	DNA	not reported	-	Hogg et al., 1992	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	GOS159	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	G416	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	RB151	unilateral rb	somatic	retinoblastoma	DNA	hemi/homozygous	-	Shimizu et al., 1994	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E587	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam409	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam425	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam428	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam649	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam909	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam703	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	JA13	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Rb228	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E2196	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	-	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	unilateral rb	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E2139	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E5015	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E2596	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	-	germline	nd	DNA	hemi/homozygous	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E430	bilateral rb	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E3126	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E3858	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E3915	-	germline	nd	DNA	-	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	-	germline	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	E3607	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam677	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam213	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam387	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam528	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam600	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam602	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam674	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam712	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam809	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam75	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam794	unilateral rb	somatic	nd	DNA	-	familial	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam868	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	Fam962	bilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	10b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	1213	unilateral rb	germline	blood	DNA	-	-	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	F5386	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	F5390	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	13	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/+	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-	RB-45	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
+?/?	g.76460C>T	c.1363C>T	Substitution	14_ex	-	p.R455X	-	nonsense	RB1_00096	unknown	507	bilateral rb	germline	blood	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	germline	RB37	bilateral rb	germline	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	somatic	FM55M1	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM895	1	-	-
+/?	g.76460C>T	c.1363C>T	Substitution	14_ex	-	-	-	nonsense	RB1_00096	germline	507	bilateral rb	germline	leukocytes	DNA	unknown	isolated	Argentina: Buenos Aires	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	germline	RB45tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	germline	RB48tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	germline	#745	bilateral rb	germline	blood	DNA	unknown	isolated	Renieri - Siena	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455*	-	nonsense	RB1_00096	germline	#777	bilateral rb	germline	blood	DNA	unknown	isolated	Renieri - Siena	1	unpublished	-
?/?	g.76460C>T	c.1363C>T	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	unknown	Tab_1_9	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	1	published	-

1 - 62

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)