Variant (rsID / SNP)

rs1803382

rs1803382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO1. Location: chromosome 16, position 88,783,100. Clinical significance in the table: Benign.

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Reference-table entries

PIEZO1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:88783100
Cytoband: 16q24.3
HGVS: NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val)
Allele change: Missense_I2265V

Associated conditions / phenotypes

Lymphatic malformation 6|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.