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GIPC3

Synonyms
C19orf64, DFNB15, DFNB72, DFNB95
External resources
Summary
The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,138
Likely benign
297
Benign
55

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on GIPC3 gene.

Phenotype class
Patients in 3billion (%)

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