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Variant (rsID / SNP)

rs8192683

ENPP1

rs8192683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,211,530. 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
6:132211530
Cytoband
6q23.2
HGVS
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
Allele change
Missense_R886T

Associated conditions / phenotypes

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

Public references

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