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Variant (rsID / SNP)

rs147316771

PIGO

rs147316771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGO. Location: chromosome 9, position 35,089,196. 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
9:35089196
Cytoband
9p13.3
HGVS
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
Allele change
Missense_F1055L

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 2|Intellectual disability

Public references

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