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APCDD1

Synonyms
B7323, DRAPC1, FP7019, HHS, HTS, HYPT1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
566
Likely benign
883
Benign
1,233

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on APCDD1 gene.

Phenotype class
Patients in 3billion (%)

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