Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs193922405

ABCC8

rs193922405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,415,907. 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
11:17415907
Cytoband
11p15.1
HGVS
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
Allele change
Missense_G1484E

Associated conditions / phenotypes

Hyperinsulinemic hypoglycemia, familial, 1|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.