HEXA c.1088dup ;(p.S364Lfs*15)

Variant ID: 15-72640084-G-GA

NM_000520.4(HEXA):c.1088dup;(p.S364Lfs*15)

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:

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D
Publication Date: 2020-10

Variant appearance in text: HEXA: 1088dupT; S364Lfs*15
PubMed Link: 32595206
Variant Present in the following documents:
  • 41436_2020_869_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page