KIT c.823_824delinsCC ;(p.L275P)

Variant ID: 4-55569956-TT-CC

NM_000222.2(KIT):c.823_824delinsCC;(p.L275P)

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:

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

Bmc Endocrine Disorders
Zhao, Xiu X; Su, Zhe Z; Liu, Xia X; Song, Jianming J; Gan, Yungen Y; Wen, Pengqiang P; Li, Shoulin S; Wang, Li L; Pan, Lili L
Publication Date: 2018-11-06

Variant appearance in text: CD117: L275P
PubMed Link: 30400872
Variant Present in the following documents:
  • Main text
  • 12902_2018_Article_307.pdf
View BVdb publication page