rs931618095

This variant is located in the PROM1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Stargardt disease 4; Retinitis pigmentosa; Cone-rod dystrophy 12; Retinal macular dystrophy type 2

About PROM1

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

View all PROM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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