RB1 c.640del ;(p.I214Ffs*5)

Variant ID: 13-48934185-GA-G

NM_000321.2(RB1):c.640del;(p.I214Ffs*5)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

Molecular Vision
Abidi, Omar O; Knari, Sara S; Sefri, Hajar H; Charif, Majida M; Senechal, Audrey A; Hamel, Christian C; Rouba, Hassan H; Zaghloul, Khalid K; El Kettani, Asmaa A; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2011

Variant appearance in text: RB1: 640delA
PubMed Link: 22219649
Variant Present in the following documents:
  • Main text
  • mv-v17-3541.pdf
View BVdb publication page