rs766821604
This variant is located in the MERTK gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout MERTK
This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
View all MERTK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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