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Variant (rsID / SNP)

rs28933977

ENPP1

rs28933977 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ENPP1. Location: chromosome 6, position 132,206,079. 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
6:132206079
Cytoband
6q23.2
HGVS
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
Allele change
Missense_R774C

Associated conditions / phenotypes

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