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Variant (rsID / SNP)

rs113873225

ABCC8

rs113873225 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,428,163. 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
11:17428163
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.3329+6C>T
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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