GJB1 c.581T>C ;(p.M194T)

Variant ID: X-70444138-T-C

NM_000166.5(GJB1):c.581T>C;(p.M194T)

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:

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Revista Da Associacao Medica Brasileira (1992)
Ceylan, Gülay Güleç GG; Habiloğlu, Esra E; Çavdarlı, Büşranur B; Tuncez, Ebru E; Bilen, Sule S; Köken, Özlem Yayıcı ÖY; Gündüz, C Nur Semerci CNS
Publication Date: 2023-02-10

Variant appearance in text: GJB1: 581T>C
PubMed Link: 36790232
Variant Present in the following documents:
  • Main text
  • 1806-9282-ramb-69-02-0233.pdf
View BVdb publication page