Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs72559722

ABCC8

rs72559722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,434,263. 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
11:17434263
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
Allele change
Nonsense_R836X

Associated conditions / phenotypes

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