Variant (rsID / SNP)

rs137852672

rs137852672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,485,004. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCC8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:17485004
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
Allele change: Missense_V187D

Associated conditions / phenotypes

Hyperinsulinemic hypoglycemia, familial, 1

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.