Bibliome.ai browser hg19
Search
About
Stats
FAQ
ACADS c.157T>G ;(p.L53V)
Variant ID: 12-121164939-T-G
NM_000017.2(
ACADS
):c.157T>G;(p.L53V)
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: 157T>G
PubMed Link:
23798014
Variant Present in the following documents:
Main text
View BVdb publication page