HEXA c.6A>G ;(p.T2=)

Variant ID: 15-72668308-T-C

NM_000520.4(HEXA):c.6A>G;(p.T2=)

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:

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Orphanet Journal Of Rare Diseases
Ibrahim, Doaa M A DMA; Ali, Ola S M OSM; Nasr, Hala H; Fateen, Ekram E; AbdelAleem, Alice A
Publication Date: 2023-03-13

Variant appearance in text: HEXA: 6A>G
PubMed Link: 36907859
Variant Present in the following documents:
  • 13023_2023_Article_2637.pdf
View BVdb publication page