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Variant (rsID / SNP)

rs117874766

ABCC8

rs117874766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,464,808. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCC8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17464808
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
Allele change
Missense_I462V

Associated conditions / phenotypes

Diabetes mellitus, transient neonatal, 2|Permanent neonatal diabetes mellitus|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism|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.