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Variant (rsID / SNP)

rs7227022

PIEZO2

rs7227022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIEZO2. Location: chromosome 18, position 10,705,744. Clinical significance in the table: Benign.

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Reference-table entries

PIEZO2Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
18:10705744
Cytoband
18p11.22
HGVS
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)
Allele change
Synonymous_S1750S

Associated conditions / phenotypes

Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome|Gordon syndrome|Marden-Walker syndrome|Arthrogryposis, distal, with impaired proprioception and touch

Public references

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