rs919429958

This variant is located in the DCHS1 gene.

ClinVar annotation

Uncertain Significance★★★
3 submitters2 publications

not provided; DCHS1-related congenital anomalies of the kidney and urinary tract; Inborn genetic diseases

View on ClinVar →

About DCHS1

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

View all DCHS1 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…