Variant (rsID / SNP)

rs770591449

rs770591449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGO. Location: chromosome 9, position 35,091,522. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PIGOPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 9:35091522
Cytoband: 9p13.3
HGVS: NM_032634.4(PIGO):c.2361dup (p.Thr788fs)

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.