HEXA c.363T>A ;(p.N121K)

Variant ID: 15-72647949-A-T

NM_000520.4(HEXA):c.363T>A;(p.N121K)

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:

A genomic mutation spectrum of collecting duct carcinoma in the Chinese population.

Bmc Medical Genomics
Zhang, Huaru H; Lu, Xiaojun X; Huang, Gang G; Hua, Meimian M; Zhang, Wenhui W; Wang, Tao T; Huang, Liqun L; Wang, Ziwei Z; Chen, Qing Q; Li, Jing J; Yang, Qing Q; Yang, Guosheng G
Publication Date: 2022-01-03

Variant appearance in text: HEXA: N121K
PubMed Link: 34980126
Variant Present in the following documents:
  • 12920_2021_1143_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page