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Variant (rsID / SNP)

rs139073416

PIGV

rs139073416 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGV. Location: chromosome 1, position 27,121,547. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PIGVPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:27121547
Cytoband
1p36.11
HGVS
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)
Allele change
Missense_A341E

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 1|Inborn genetic diseases|Hyperphosphatasia-intellectual disability syndrome

Public references

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