ACADS c.2T>A ;(p.M1?)

Variant ID: 12-121163690-T-A

NM_000017.2(ACADS):c.2T>A;(p.M1?)

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:

Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report.

Frontiers In Genetics
Chen, Xiaohong X; Han, Lin L; Yao, Hui H
Publication Date: 2020

Variant appearance in text: SCAD: 2T>A
PubMed Link: 32362910
Variant Present in the following documents:
  • Main text
  • fgene-11-00341.pdf
View BVdb publication page