Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs8192690

ABCC8KCNJ11

rs8192690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8, KCNJ11. Location: chromosome 11, position 17,414,570. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ABCC8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:17414570
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
Allele change
Missense_V1572I

Associated conditions / phenotypes

Transient Neonatal Diabetes, Dominant|Permanent neonatal diabetes mellitus|Maturity onset diabetes mellitus in young|Hyperinsulinism, Dominant/Recessive|Diabetes mellitus, transient neonatal, 2|Hyperinsulinemic hypoglycemia, familial, 1|Leucine-induced hypoglycemia|Diabetes mellitus, permanent neonatal 3|Hereditary hyperinsulinism|Neonatal hypoglycemia

Public references

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