rs547918064
This is a variant in the ALDH1A3 gene that changes a glycine to an valine.
▶ClinVar annotation
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.
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