AHSA1 c.940C>T ;(p.R314W)

Variant ID: 14-77935515-C-T

NM_012111.2(AHSA1):c.940C>T;(p.R314W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Exome Sequencing in Individuals with Isolated Biliary Atresia.

Scientific Reports
Rajagopalan, Ramakrishnan R; Tsai, Ellen A EA; Grochowski, Christopher M CM; Kelly, Susan M SM; Loomes, Kathleen M KM; Spinner, Nancy B NB; Devoto, Marcella M
Publication Date: 2020-02-17

Variant appearance in text: AHSA1: R314W
PubMed Link: 32066793
Variant Present in the following documents:
  • 41598_2020_59379_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: AHSA1: R314W
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page