Variant (rsID / SNP)

rs147101825

rs147101825 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGO. Location: chromosome 9, position 35,091,718. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIGOConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:35091718
Cytoband: 9p13.3
HGVS: NM_032634.4(PIGO):c.2166G>C (p.Ala722=)
Allele change: Synonymous_A722A

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 2

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.