HEXA c.1287T>G ;(p.P429=)

Variant ID: 15-72638911-A-C

NM_000520.4(HEXA):c.1287T>G;(p.P429=)

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:

OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research
Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X
Publication Date: 2023-03-24

Variant appearance in text: HEXA: Pro429Pro
PubMed Link: 36961377
Variant Present in the following documents:
  • pr3c00054_si_002.xlsx, sheet 2
View BVdb publication page