rs267606659

This is a variant in the APCDD1 gene that changes a leucine to an arginine.

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ClinVar annotation

Pathogenic

1 submitter3 publications

Hypotrichosis 1

About APCDD1

This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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