HEXA c.1189C>T ;(p.P397S)

Variant ID: 15-72639009-G-A

NM_000520.4(HEXA):c.1189C>T;(p.P397S)

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:

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Molecular Genetics & Genomic Medicine
Cecchi, Alana C AC; Vengoechea, Elizabeth S ES; Kaseniit, Kristjan E KE; Hardy, Melanie W MW; Kiger, Laura A LA; Mehta, Nikita N; Haque, Imran S IS; Moyer, Krista K; Page, Patricia Z PZ; Muzzey, Dale D; Grinzaid, Karen A KA
Publication Date: 2019-08

Variant appearance in text: HEXA: 1189C>T
PubMed Link: 31293106
Variant Present in the following documents:
  • MGG3-7-e836-s002.xlsx, sheet 5
View BVdb publication page