Variant (rsID / SNP)

rs587776989

rs587776989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO1. Location: chromosome 16, position 88,786,583. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PIEZO1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:88786583
Cytoband: 16q24.3
HGVS: NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)
Allele change: Missense_A2020T

Associated conditions / phenotypes

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

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.