rs199950368

This variant is located in the TTYH1 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About TTYH1

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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