rs145630728

This variant is located in the ALDH1A3 gene.

▶

ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Isolated microphthalmia 8; Inborn genetic diseases

View on ClinVar →

About ALDH1A3

This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

View all ALDH1A3 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…