Variant (rsID / SNP)

rs28938469

rs28938469 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,417,206. 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: 11:17417206
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
Allele change: Missense_R1420C

Associated conditions / phenotypes

Hyperinsulinemic hypoglycemia, familial, 1|Hereditary hyperinsulinism

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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