rs587777545

This is a variant in the KRT71 gene that changes a phenylalanine to an cysteine.

▶

ClinVar annotation

Pathogenic
1 submitter1 publication

Hypotrichosis 13 (HYPT13)

View on ClinVar →

About KRT71

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

View all KRT71 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…