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BRCA1 c.355_356delinsGC ;(p.K119A)
Variant ID: 17-41256224-TT-GC
NM_007294.3(
BRCA1
):c.355_356delinsGC;(p.K119A)
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:
Human RECQ1 interacts with Ku70/80 and modulates DNA end-joining of double-strand breaks.
Plos One
Parvathaneni, Swetha S; Stortchevoi, Alexei A; Sommers, Joshua A JA; Brosh, Robert M RM; Sharma, Sudha S
Publication Date: 2013
Variant appearance in text: BRCA1: K119A
PubMed Link:
23650516
Variant Present in the following documents:
Main text
View BVdb publication page