rs1012472070
This is a synonymous variant in the PIEZO1 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Likely Pathogenic★☆☆☆
1 submitterAbout PIEZO1
The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
View all PIEZO1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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