Variant (rsID / SNP)

rs267606951

rs267606951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGV. Location: chromosome 1, position 27,121,679. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIGVPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:27121679
Cytoband: 1p36.11
HGVS: NM_017837.4(PIGV):c.1154A>C (p.His385Pro)
Allele change: Missense_H385P

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.