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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