rs373047974

This variant is located in the HHAT gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication
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About HHAT

'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]

View all HHAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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