GJB1 c.380T>C ;(p.I127T)

Variant ID: X-70443937-T-C

NM_000166.5(GJB1):c.380T>C;(p.I127T)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: I127T
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page


Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology
Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X
Publication Date: 2021-01

Variant appearance in text: CMTX1: Ile127Thr
PubMed Link: 33314704
Variant Present in the following documents:
  • Main text
  • ACN3-8-213.pdf
View BVdb publication page