HEXA c.1124A>T ;(p.E375V)

Variant ID: 15-72640049-T-A

NM_000520.4(HEXA):c.1124A>T;(p.E375V)

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:

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget
Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S
Publication Date: 2017-09-26

Variant appearance in text: HEXA: E375V
PubMed Link: 29088767
Variant Present in the following documents:
  • oncotarget-08-74049-s002.xlsx, sheet 8
View BVdb publication page