KIT c.94G>A ;(p.G32R)

Variant ID: 4-55561704-G-A

NM_000222.2(KIT):c.94G>A;(p.G32R)

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:

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.

Bmc Medical Genomics
Wang, Jianbo J; Li, Weisheng W; Zhou, Naihui N; Liu, Jingliu J; Zhang, Shoumin S; Li, Xueli X; Li, Zhenlu Z; Yang, Ziliang Z; Sun, Miao M; Li, Min M
Publication Date: 2021-01-06

Variant appearance in text: KIT: 94G>A
PubMed Link: 33407466
Variant Present in the following documents:
  • 12920_2020_Article_851.pdf
View BVdb publication page