rs1333020874

This variant is located in the KLHL7 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

not provided; Inborn genetic diseases

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…