KIT c.645_650del ;(p.V216_S217del)

Variant ID: 4-55565814-TTGTGTC-T

NM_000222.2(KIT):c.645_650del;(p.V216_S217del)

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:

A novel c.2326G>A KIT pathogenic variant in piebaldism.

American Journal Of Translational Research
Shi, Weili W; Yang, Ke K; Sun, Yafei Y; Chu, Yan Y; Zhang, Yuwei Y; Hao, Bingtao B; Liao, Shixiu S
Publication Date: 2020

Variant appearance in text: KIT: 645_650delTGTGTC
PubMed Link: 33194047
Variant Present in the following documents:
  • Main text
View BVdb publication page