TG c.1357_1358del ;(p.L453Gfs*31)

Variant ID: 8-133898974-GCT-G

NM_003235.4(TG):c.1357_1358del;(p.L453Gfs*31)

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:

Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations.

Anais Brasileiros De Dermatologia
Hegazi, Moustafa Abdelaal MA; Manou, Sommen S; Sakr, Hazem H; Camp, Guy Van GV
Publication Date: 2017

Variant appearance in text: TG: 1357_1358del
PubMed Link: 29267478
Variant Present in the following documents:
  • Main text
  • abd-92-05-s1-0154.pdf
View BVdb publication page