rs1190809246

This variant is located in the KL gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Tumoral calcinosis, hyperphosphatemic, familial, 3

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About KL

This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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