ACADS c.833A>G ;(p.Q278R)

Variant ID: 12-121176373-A-G

NM_000017.2(ACADS):c.833A>G;(p.Q278R)

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:

Applying Genomic Analysis to Newborn Screening.

Molecular Syndromology
Solomon, B D BD; Pineda-Alvarez, D E DE; Bear, K A KA; Mullikin, J C JC; Evans, J P JP; ,
Publication Date: 2012-08

Variant appearance in text: SCAD: 833A>G
PubMed Link: 23112750
Variant Present in the following documents:
  • Main text
View BVdb publication page