rs10151259

This is a variant in the RPGRIP1 gene that changes a alanine to an serine.

▶

ClinVar annotation

Likely Benign★★★☆
20 submitters11 publications

Cone-rod dystrophy 13 (CORD13); Leber congenital amaurosis 1 (LCA1); Leber congenital amaurosis 6 (LCA6); Retinal dystrophy; not specified

View on ClinVar →

About RPGRIP1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

View all RPGRIP1 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…