ACADS c.624G>A ;(p.K208=)

Variant ID: 12-121175791-G-A

NM_000017.2(ACADS):c.624G>A;(p.K208=)

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:

A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

Cold Spring Harbor Molecular Case Studies
Cömert, Cagla C; Brick, Lauren L; Ang, Debbie D; Palmfeldt, Johan J; Meaney, Brandon F BF; Kozenko, Mariya M; Georgopoulos, Costa C; Fernandez-Guerra, Paula P; Bross, Peter P
Publication Date: 2020-06

Variant appearance in text: ACADS: 624G>A
PubMed Link: 32532876
Variant Present in the following documents:
  • Main text
  • MCS004879Com.pdf
View BVdb publication page