ANO3 c.126G>C ;(p.Q42H)

Variant ID: 11-26463544-G-C

NM_031418.2(ANO3):c.126G>C;(p.Q42H)

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: ANO3: Q42H; rs748671370
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12

Variant appearance in text: ANO3: 126G>C; Q42H
PubMed Link: 30602096
Variant Present in the following documents:
  • Main text
  • gi-2018-16-4-e35.pdf
View BVdb publication page