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Variant (rsID / SNP)

rs200970763

PIEZO1

rs200970763 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO1. Location: chromosome 16, position 88,800,139. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIEZO1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88800139
Cytoband
16q24.3
HGVS
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
Allele change
Missense_G782S

Associated conditions / phenotypes

Lymphatic malformation 6

Public references

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