F2 c.994G>A ;(p.G332R)

Variant ID: 11-46748167-G-A

NM_000506.3(F2):c.994G>A;(p.G332R)

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:

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Acta Neuropathologica Communications
Boizot, Alexia A; Talmat-Amar, Yasmina Y; Morrogh, Deborah D; Kuntz, Nancy L NL; Halbert, Cecile C; Chabrol, Brigitte B; Houlden, Henry H; Stojkovic, Tanya T; Schulman, Brenda A BA; Rautenstrauss, Bernd B; Bomont, Pascale P
Publication Date: 2014-04-24

Variant appearance in text: F2: G332R
PubMed Link: 24758703
Variant Present in the following documents:
  • Main text
  • 2051-5960-2-47.pdf
View BVdb publication page