rs764682423

This variant is located in the ADAR gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities

View on ClinVar →

About ADAR

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

View all ADAR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…