GJB1 c.215C>T ;(p.S72F)

Variant ID: X-70443772-C-T

NM_000166.5(GJB1):c.215C>T;(p.S72F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23

Variant appearance in text: GJB1: S72F
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: GJB1: S72F
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
  • srep31321-s5.xls, sheet 1
View BVdb publication page