Variant (rsID / SNP)

rs142562923

rs142562923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGO. Location: chromosome 9, position 35,095,102. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PIGOBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:35095102
Cytoband: 9p13.3
HGVS: NM_032634.4(PIGO):c.461C>A (p.Ala154Asp)
Allele change: Missense_A154D

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.