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.

46 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.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB197	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1994	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB431	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1994	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB297	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1995	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB181	rb	germline	blood	DNA	not reported	familial	Blanquet et al., 1995	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB11	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB123	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB281	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Nidp	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	G420	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E787T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB-190	bilateral rb	germline	blood	DNA	-	isolated	Mateu et al., 1997	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB25	unilateral rb	germline	retinoblastoma	DNA	heterozygous	isolated	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	RB56	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam348	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam415	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam627	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	JA193	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E637	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E5217	-	-	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E4629	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E1465	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	bilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E1851	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E2224	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E2662	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	-	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E5619	bilateral rb	germline	nd	DNA	-	familial	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	E4159	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam442	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam815	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam650	unilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	Fam628	bilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	13	bilateral rb	-	retinoblastoma	DNA	-	-	Van Orsouw et al. (1996) Hum Mol Genet 5: 755	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	F5088	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	F2573	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	33	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/+	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	34	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/?	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-	22 361	bilateral rb	unknown	nd	DNA	unknown	isolated	Munier - Lausanne	1	-	Mutation was not found in blood of parents and brother
?/?	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	unknown	22 361	bilateral rb	-	nd	DNA	-	isolated	Munier - Lausanne	1	-	no mutation was found in parents and brother
?/?	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	germline	RB41tunesia	bilateral rb	germline	blood	DNA	-	isolated	-	1	unpublished	-
?/?	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	germline	#5	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/?	g.59695C>T	c.763C>T	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	germline	#6	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-

1 - 46

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)