GAA c.918G>T ;(p.S306=)

Variant ID: 17-78081658-G-T

NM_000152.3(GAA):c.918G>T;(p.S306=)

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:

Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.

Kidney International Reports
Schijvens, Anne M AM; van de Kar, Nicole C NC; Bootsma-Robroeks, Charlotte M CM; Cornelissen, Elisabeth A EA; van den Heuvel, Lambertus P LP; Schreuder, Michiel F MF
Publication Date: 2020-12

Variant appearance in text: GAA: 918G>T
PubMed Link: 33305107
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page