COMT c.120G>T ;(p.E40D)

Variant ID: 22-19950169-G-T

NM_000754.3(COMT):c.120G>T;(p.E40D)

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:

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.

Bmc Medical Genetics
Sarmadi, Akram A; Nasrniya, Samane S; Soleimani Farsani, Maryam M; Narrei, Sina S; Nouri, Zahra Z; Sepehrnejad, Mahsa M; Nilforoush, Mohammad Hussein MH; Abtahi, Hamidreza H; Tabatabaiefar, Mohammad Amin MA
Publication Date: 2020-06-09

Variant appearance in text: COMT: Glu40Asp
PubMed Link: 32517708
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1061.pdf
View BVdb publication page