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.

65 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.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	RB398	unilateral rb	germline	blood	DNA	not reported	-	Blanquet et al., 1995	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	GOS159	unilateral rb	somatic	retinoblastoma	DNA	-	-	Hogg et al., 1993	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	TS3	bilateral rb	germline	blood	DNA	not reported	isolated	Liu et al., 1995	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E672T	bilateral rb	somatic	retinoblastoma	DNA	-	isolated	Lohmann et al., 1997	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G94	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G434	rb	germline	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G486	bilateral rb	germline inherited	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	G823	rb	germline	blood	DNA	-	familial	Lohmann et al., 1996	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	RB-W24	-	-	blood	DNA	not reported	-	Yandell et al., 1989	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E572	bilateral rb	germline	blood	DNA	-	isolated	Yilmaz et al., 1998	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E952T	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Klutz et al ., 1999	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	2	unilateral rb	germline	blood	DNA	not reported	isolated	Zajaczek et al., 1998	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam224	bilateral rb	germline	nd	DNA	-	familial	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam332	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam411	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam557	bilateral rb	germline	nd	DNA	-	-	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam599	bilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Yu54	unilateral rb	germline	blood	DNA	-	-	Choy et al. (2002) Hum Mutat 20(5): 408.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	JA333	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2001) Hum Mutat 17(5): 412-22.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Rb79	rb	germline	blood	DNA	-	-	Tsai et al. (2004) Arch Ophthalmol 122:239	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	Nichols et al. (2005) Hum Mutat 25(6): 566-74.	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E2201	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E3404	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E1394	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	-	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E85	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E3241	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E4725	bilateral rb	germline	nd	DNA	unknown	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E1399	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E3400	unilateral rb	somatic	nd	DNA	hemi/homozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	E2186	bilateral rb	germline	nd	DNA	-	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	-	somatic	nd	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	unilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	not provided	bilateral rb	somatic	retinoblastoma	DNA	heterozygous	isolated	Lohmann - Essen	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam341	bilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam840	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam208	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam684	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam776	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam812	bilateral rb	germline	nd	DNA	-	-	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam172	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam533	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam746	unilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam963	unilateral rb	somatic	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam24	bilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	Fam926	bilateral rb	somatic	nd	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	case 2	bilateral rb	germline	blood	DNA	-	isolated	Zajaczek et al. (1999) Eur J Cancer 35(13):1824	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	163	bilateral rb	germline	blood	DNA	-	familial	Dalamon et al. (2004)JBiochem Mol Biol37: 246	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	0913	bilateral rb	germline	blood	DNA	-	isolated	Alonso et al. (2005) Hum Mutat 25: 99	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	RB1	bilateral rb	germline	retinoblastoma	DNA	heterozygous	isolated	de Andrade et al. (2006) Cancer Genet Cytogenet 167: 43	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	35	bilateral rb	germline	blood	DNA	-	familial	Abouzeid et al. (2007) Mol Vis 13: 1740	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	F4; pt# 6	bilateral retinoma	germline	blood	DNA	-	familial	Abouzeid et al. (2009), Mol Vis.;15:771-7	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	F4; pt# 7	unilateral rb/retinoma	germline	blood	DNA	-	familial	Abouzeid et al. (2009), Mol Vis.;15:771-7	1	published	-
?/+	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	-	F4; pt# 8	bilateral retinoma	germline	blood	DNA	-	familial	Abouzeid et al. (2009), Mol Vis.;15:771-7	1	published	-
?/?	g.65386C>T	c.1072C>T + c.2663+2T>A	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	somatic	E2119	bilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	unpublished	-
?/?	g.65386C>T	c.1072C>T + c.2058_2066del	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	somatic	E3215	bilateral rb	germline	tumor	DNA	heterozygous	isolated	Germany:Essen	1	-	new germline mutation
?/?	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	germline	RB39	bilateral rb	-	blood	DNA	-	-	Abidi et al. (2011) Mol Vis.;17:3541-7	1	published	-
?/?	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	somatic	SJRB001X	retinoblastoma	somatic	nd	DNA	-	-	COSMIC - COSM879, Zhang et al., 2012	1	published	-
+/?	g.65386C>T	c.1072C>T	substitution	11_ex	-	p.Arg358X	-	nonsense	RB1_00008	unknown	Tab_1_6	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)