HEXA c.721G>A ;(p.E241K)

Variant ID: 15-72642943-C-T

NM_000520.4(HEXA):c.721G>A;(p.E241K)

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:

Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.

Pathology Oncology Research : Por
Li, Lihong L; Song, Qianqian Q; Cao, Dandan D; Jiao, Yuchen Y; Yuan, Guangwen G; Song, Yan Y
Publication Date: 2022

Variant appearance in text: HEXA: 721G>A; Glu241Lys
PubMed Link: 35645619
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page