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Variant (rsID / SNP)

rs193922399

ABCC8

rs193922399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,426,074. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCC8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17426074
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
Allele change
Missense_F1181C

Associated conditions / phenotypes

Neonatal diabetes mellitus|Transitory neonatal diabetes mellitus|Maturity onset diabetes mellitus in young

Public references

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