HEXA c.325dup ;(p.T109Nfs*14)

Variant ID: 15-72648886-G-GT

NM_000520.4(HEXA):c.325dup;(p.T109Nfs*14)

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:

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.

Child Neurology Open
Ozaal, Siddiqa S; Jayasena, Subashinie S; Jayakody, Surani S; Schröder, Sabine S; Jayawardana, Anura A; Jasinge, Eresha E
Publication Date: 2022

Variant appearance in text: HEXA: 325dup
PubMed Link: 36407556
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X221139495.pdf
View BVdb publication page