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.

49 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.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Nip	bilateral rb	germline	blood	DNA	not reported	-	Cowell et al., 1994	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	GOS561	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	TS81	rb	germline	blood	DNA	not reported	familial	Liu et al., 1995	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E616T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E482T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	G504	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Nidp	bilateral rb	germline	pinealoblastoma	DNA	hemi/homozygous	isolated	Onadim et al., 1997	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	#262	bilateral rb	germline	blood	DNA	not reported	familial	Sippel et al., 1998	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	HC9	bilateral rb	germline	retinoblastoma	DNA	homo-/heterozygous	isolated	Braggio et al. (2004) J Clin Pathol 57(6): 585-90.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	RB63	unilateral rb	germline	retinoblastoma	DNA	homozygous	-	Kiran et al. (2003) Hum Mutat 22(4): 339.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	-	-	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam305	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam620	bilateral rb	germline	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam5	unilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Rb31	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Rb227	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	germline	blood	DNA	-	-	Houdayer et al. (2004) Hum Mutat 23(2): 193-202.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	germline	blood	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9.	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E72	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	unilateral rb	germline	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	somatic	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E3181	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	somatic	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E3942	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	not provided	-	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	E4069	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	not reported	Lohmann - Essen	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam793	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam107	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam245	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam645	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam792	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam884	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam641	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam759	bilateral rb	germline	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam850	bilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	Fam877	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	CU001	bilateral rb	germline	blood	DNA	-	familial	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	21	bilateral rb	germline	blood	DNA	-	familial	Sampieri et al. (2006) J Hum Genet 51: 209	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	T14	bilateral sporadic	-	retinoblastoma	DNA	-	isolated	Babenko et al. (2002) Mol Biol (Mosk) 36: 777	1	published	-
?/+	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	-	RB-1	bilateral rb	germline	blood	DNA	-	isolated	-	1	published	-
?/?	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	somatic	Br04X	other cancer	somatic	nd	DNA	-	-	COSMIC - COSM888	1	-	-
?/?	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556X	-	nonsense	RB1_00124	germline	#11	bilateral rb	germline	blood	DNA	-	isolated	Seo et al., 2012	1	published	-
?/?	g.78250C>T	c.1666C>T	substitution	17_ex	-	p.Arg556*	-	nonsense	RB1_00124	germline	#704	bilateral rb	germline	blood	DNA	unknown	isolated	Renieri - Siena	1	unpublished	-

1 - 49

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)