ACADS c.387G>T ;(p.K129N)

Variant ID: 12-121175185-G-T

NM_000017.2(ACADS):c.387G>T;(p.K129N)

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:

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Developmental Disabilities Research Reviews
Waisbren, Susan E SE; Landau, Yuval Y; Wilson, Jenna J; Vockley, Jerry J
Publication Date: 2013

Variant appearance in text: SCAD: 387G>T
PubMed Link: 23798014
Variant Present in the following documents:
  • Main text
View BVdb publication page