GAA c.370_371delinsGC ;(p.Q124A)

Variant ID: 17-78078755-CA-GC

NM_000152.3(GAA):c.370_371delinsGC;(p.Q124A)

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:

Frataxin and mitochondrial FeS cluster biogenesis.

The Journal Of Biological Chemistry
Stemmler, Timothy L TL; Lesuisse, Emmanuel E; Pain, Debkumar D; Dancis, Andrew A
Publication Date: 2010-08-27

Variant appearance in text: GAA: Q124A
PubMed Link: 20522547
Variant Present in the following documents:
  • Main text
View BVdb publication page