Variant (rsID / SNP)

rs4148619

rs4148619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,452,500. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCC8Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:17452500
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
Allele change: Missense_V560M

Associated conditions / phenotypes

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