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TTYH2

Synonyms
C17orf29
External resources
Summary
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene.

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
7,097
Likely benign
1,898
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TTYH2 gene.

Phenotype class
Patients in 3billion (%)

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