GJB1 c.233C>T ;(p.S78F)

Variant ID: X-70443790-C-T

NM_000166.5(GJB1):c.233C>T;(p.S78F)

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 features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

European Journal Of Human Genetics : Ejhg
Mandich, Paola P; Fossa, Paola P; Capponi, Simona S; Geroldi, Alessandro A; Acquaviva, Massimo M; Gulli, Rossella R; Ciotti, Paola P; Manganelli, Fiore F; Grandis, Marina M; Bellone, Emilia E
Publication Date: 2009-09

Variant appearance in text: GJB1: 233C>T; Ser78Leu
PubMed Link: 19293842
Variant Present in the following documents:
  • Main text
View BVdb publication page