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Variant (rsID / SNP)

rs193922397

ABCC8

rs193922397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,464,281. 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
11:17464281
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
Allele change
Missense_Y539C

Associated conditions / phenotypes

Neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2|Maturity onset diabetes mellitus in young|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.