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Variant (rsID / SNP)

rs374270497

ENPP1

rs374270497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,181,644. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ENPP1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:132181644
Cytoband
6q23.2
HGVS
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
Allele change
Missense_P305T

Associated conditions / phenotypes

Arterial calcification, generalized, of infancy, 1|Hypophosphatemic rickets, autosomal recessive, 2

Public references

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