HEXA c.1008G>C ;(p.Q336H)

Variant ID: 15-72640454-C-G

NM_000520.4(HEXA):c.1008G>C;(p.Q336H)

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:

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports
Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR
Publication Date: 2019-09

Variant appearance in text: HEXA: Gln336His
PubMed Link: 31367523
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page