Variant (rsID / SNP)

rs192225494

rs192225494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO2. Location: chromosome 18, position 10,761,048. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PIEZO2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:10761048
Cytoband: 18p11.22
HGVS: NM_001378183.1(PIEZO2):c.3311A>G (p.Tyr1104Cys)
Allele change: Missense_Y1079C

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.