PC c.1619G>T ;(p.G540V)

Variant ID: 11-66620116-C-A

NM_001040716.1(PC):c.1619G>T;(p.G540V)

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 heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.

Bmc Endocrine Disorders
Xu, Weiwei W; Zhou, Weibin W; Lin, Haiyang H; Ye, Dan D; Chen, Guoping G; Dong, Fengqin F; Shen, Jianguo J
Publication Date: 2021-09-25

Variant appearance in text: PC: 1619G>T
PubMed Link: 34563184
Variant Present in the following documents:
  • 12902_2021_Article_836.pdf
View BVdb publication page