Variant (rsID / SNP)

rs147153006

rs147153006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO1. Location: chromosome 16, position 88,790,362. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PIEZO1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:88790362
Cytoband: 16q24.3
HGVS: NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His)
Allele change: Missense_Y1418H

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.