Gene entry
PIEZO1
piezo type mechanosensitive ion channel component 1 (Er blood group)
- Chromosome
- 16
- Cytoband
- 16q24.3
- Variants (rsID)
- 42
PIEZO1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “piezo type mechanosensitive ion channel component 1 (Er blood group)”. The reference table lists 42 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs1803382Benignsingle nucleotide variantLymphatic malformation 6|Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- rs34679131Benignsingle nucleotide variant
- rs72811487Benignsynonymous_variant
- rs200970763Conflicting interpretationssingle nucleotide variantLymphatic malformation 6
- rs202103485Conflicting interpretationssingle nucleotide variant
- rs587776989Pathogenicsingle nucleotide variantDehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
- rs147153006Uncertain significancesingle nucleotide variant
Other listed variants
- rs736204
- rs750740
- rs889764
- rs2242166
- rs2926774
- rs2968482
- rs4520817
- rs4782509
- rs7185630
- rs7203655
- rs7404987
- rs9788969
- rs9933309
- rs10445033
- rs10852632
- rs11076712
- rs11861895
- rs11861910
- rs12595954
- rs12597726
- rs12924828
- rs34246477
- rs34830861
- rs35957746
- rs57816951
- rs72813538
- rs74461095
- rs116950354
- rs116986688
- rs139051768
- rs142027562
- rs144035770
- rs146504772
- rs146505418
- rs189598026
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.