rs137853112
This is a variant in the KLHL7 gene that changes a serine to an asparagine.
▶ClinVar annotation
About KLHL7
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
View all KLHL7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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