HEXA c.580G>A ;(p.A194T)

Variant ID: 15-72643566-C-T

NM_000520.4(HEXA):c.580G>A;(p.A194T)

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:

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: HEXA: 580G>A
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page