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Variant (rsID / SNP)

rs137852676

ABCC8

rs137852676 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,417,399. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCC8Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:17417399
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
Allele change
Missense_G1400R

Associated conditions / phenotypes

Diabetes mellitus, permanent neonatal 3|Familial hyperinsulinism|Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism

Public references

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