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.

5 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.61788C>T	c.920C>T	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	-	Fam171	unilateral rb	germline	nd	DNA	-	isolated	Richter et al. (2003) Am J Hum Genet 72(2): 253-69.	1	published	Tumor showed hetero Ser618X and hetero Thr307Iso. Blood showed only Thr307Iso.
?/?	g.61788C>T	c.920C>T	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	-	3u	unilateral rb	germline	blood	DNA	-	familial lp	-	1	published	-
?/?	g.61788C>T	c.920C>T	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	-	RB-29	unilateral rb	germline	blood	DNA	-	isolated	Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27.	1	published	-
?/?	g.61788C>T	c.920C>T	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	-	836	unilateral rb	-	blood	DNA	-	-	-	1	-	Hetero Thr307Iso in blood; no tumor available. Unaffected mother also carries this change. Previously encountered in another lab in three unaffected relatives of an isolated uni proband.
+/?	g.61788C>T	c.920C>T	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	unknown	Tab_1_26	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)