rs148219875

This variant is located in the CTSH gene.

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ClinVar annotation

Likely Benign★☆☆☆

2 submitters1 publication

not provided; Uterine corpus endometrial carcinoma; Gastric cancer; Hepatocellular carcinoma

About CTSH

The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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