HEXA c.1321G>A ;(p.A441T)

Variant ID: 15-72638877-C-T

NM_000520.4(HEXA):c.1321G>A;(p.A441T)

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:

Infantile gangliosidoses: Mapping a timeline of clinical changes.

Molecular Genetics And Metabolism
Jarnes Utz, Jeanine R JR; Kim, Sarah S; King, Kelly K; Ziegler, Richard R; Schema, Lynn L; Redtree, Evelyn S ES; Whitley, Chester B CB
Publication Date: 2017-06

Variant appearance in text: HEXA: 1321G>A
PubMed Link: 28476546
Variant Present in the following documents:
  • Main text
View BVdb publication page