PC c.3056A>C ;(p.H1019P)

Variant ID: 11-66617173-T-G

NM_001040716.1(PC):c.3056A>C;(p.H1019P)

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:

Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.

Bmc Gastroenterology
Li, Mingming M; Ma, Jing J; Wang, Wenlong W; Yang, Xu X; Luo, Kaizhong K
Publication Date: 2021-09-01

Variant appearance in text: PC: 3056A>C; His1019Pro
PubMed Link: 34470610
Variant Present in the following documents:
  • 12876_2021_Article_1911.pdf
View BVdb publication page