ACADS c.277C>A ;(p.L93I)

Variant ID: 12-121174855-C-A

NM_000017.2(ACADS):c.277C>A;(p.L93I)

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:

Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

Korean Journal Of Pediatrics
An, Se Jin SJ; Kim, Sook Za SZ; Kim, Gu Hwan GH; Yoo, Han Wook HW; Lim, Han Hyuk HH
Publication Date: 2016-11

Variant appearance in text: ACADS: 277C>A
PubMed Link: 28018444
Variant Present in the following documents:
  • Main text
  • kjped-59-S45.pdf
View BVdb publication page