Variant (rsID / SNP)

rs139246652

rs139246652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGV. Location: chromosome 1, position 27,120,626. Clinical significance in the table: Benign.

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Reference-table entries

PIGVBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:27120626
Cytoband: 1p36.11
HGVS: NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)
Allele change: Missense_P34L

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 1

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.