rs61744143

This variant is located in the HHAT gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not provided; Chondrodysplasia-pseudohermaphroditism syndrome; HHAT-related disorder; Hepatocellular carcinoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Lung cancer

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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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