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Variant (rsID / SNP)

rs149171782

PIGO

rs149171782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGO. Location: chromosome 9, position 35,091,616. 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
9:35091616
Cytoband
9p13.3
HGVS
NM_032634.4(PIGO):c.2268G>A (p.Ala756=)
Allele change
Synonymous_A756A

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 2

Public references

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