Variant (rsID / SNP)

rs8192695

rs8192695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,491,730. Clinical significance in the table: Benign.

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Reference-table entries

ABCC8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:17491730
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
Allele change: Synonymous_A110A

Associated conditions / phenotypes

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

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.