rs267607142

This is a variant in the TRPM4 gene that changes a glutamate to an lysine.

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ClinVar annotation

Pathogenic★☆☆☆
2 submitters3 publications

Progressive familial heart block type IB (PFHB1B); TRPM4-related disorder

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About TRPM4

The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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