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TCHHL1

Synonyms
S100A17, THHL1
External resources
Summary
This gene belongs to the S100 fused-type protein (SFTP) gene family, and is located in a cluster of SFTP genes on chromosome 1q21. Several members of this family have been implicated in the development of complex skin disorders. This gene is evolutionarily conserved; its expression appears to be hair-specific and spatially restricted within the distal inner root sheath of the hair follicle. It thus may have an important role in hair morphogenesis.

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
4,571
Likely benign
2,038
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on TCHHL1 gene.

Phenotype class
Patients in 3billion (%)

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