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.

55 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.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	RB127	bilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	G1001	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	G430	bilateral rb	germline	blood	DNA	-	isolated	Lohmann et al., 1996	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	G496	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	KS-163	other tumor	somatic	osteosarcoma	DNA	homozygous	-	Wadayama et al., 1994	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E3T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E687T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E711T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	RB60	bilateral rb	germline	blood	DNA	-	familial	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	-	-	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam44	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam235	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam481	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam493	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam145	bilateral rb	somatic	retinoblastoma	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E5108	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E1051	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E1142	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E1748	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E22	bilateral rb	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E2570	bilateral rb	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	-	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E2787	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	E3878	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	-	-	nd	DNA	hemi/homozygous	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	-	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	not provided	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam221	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam121	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam495	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam610	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam622	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam880	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam431	unilateral rb	germline	nd	DNA	-	familial	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam635	bilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam807	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam410	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	Fam442	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	11b	bilateral rb	germline	blood	DNA	-	familial	-	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	12b	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	6	bilateral rb	-	retinoblastoma	DNA	-	-	Van Orsouw et al. (1996) Hum Mol Genet 5: 755	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	F4540	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	F2970	rb	germline	blood	DNA	-	familial	Taylor et al. (2007) Hum Mutat 28: 284	1	published	-
?/+	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	14	bilateral rb	germline	blood	DNA	-	isolated	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
+/?	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	IRB9	bilateral rb	somatic	Retinoblastoma Tumor	DNA	heterozygous	isolated	Iran:Tehran	1	-	-
+/?	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-	IRB10	bilateral rb	germline	Retinoblastoma Tumor	DNA	hemi/homozygous	isolated	Iran:Tehran	1	-	-
?/?	g.76898C>T	c.1399C>T + c.951_954del	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	germline	E2276	bilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	new germline mutation
?/?	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	somatic	S81261	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM866, Wadayama et al., 1994	1	published	-
?/?	g.76898C>T	c.1399C>T	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	unknown	Tab_1_10	retinoblastoma	unknown	blood	DNA	heterozygous	isolated	Ming-yan He et al. 2014 Mol.vis.: 20:545-52	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)