HEXA c.416T>A ;(p.L139Q)

Variant ID: 15-72646075-A-T

NM_000520.4(HEXA):c.416T>A;(p.L139Q)

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 testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Scientific Reports
Mahdieh, Nejat N; Soveizi, Mahdieh M; Tavasoli, Ali Reza AR; Rabbani, Ali A; Ashrafi, Mahmoud Reza MR; Kohlschütter, Alfried A; Rabbani, Bahareh B
Publication Date: 2021-02-05

Variant appearance in text: HEXA: Leu139Gln
PubMed Link: 33547378
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82778.pdf
View BVdb publication page