PC c.2605G>A ;(p.G869S)

Variant ID: 11-66617804-C-T

NM_001040716.1(PC):c.2605G>A;(p.G869S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PC: G869S; rs751998175
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: 2605G>A; Gly869Arg
PubMed Link: 34470610
Variant Present in the following documents:
  • 12876_2021_Article_1911.pdf
View BVdb publication page