rs146542222

This variant is located in the LRP4 gene.

▶

ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Sclerosteosis 2;Cenani-Lenz syndactyly syndrome;Congenital myasthenic syndrome 17; Inborn genetic diseases

View on ClinVar →

About LRP4

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]

View all LRP4 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…