KIT c.793G>C ;(p.G265R)

Variant ID: 4-55569926-G-C

NM_000222.2(KIT):c.793G>C;(p.G265R)

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:

Functional analysis of 11 novel GBA alleles.

European Journal Of Human Genetics : Ejhg
Malini, Erika E; Grossi, Serena S; Deganuto, Marta M; Rosano, Camillo C; Parini, Rossella R; Dominisini, Silvia S; Cariati, Roberta R; Zampieri, Stefania S; Bembi, Bruno B; Filocamo, Mirella M; Dardis, Andrea A
Publication Date: 2014-04

Variant appearance in text: KIT: G265R
PubMed Link: 24022302
Variant Present in the following documents:
  • Main text
View BVdb publication page