Variant (rsID / SNP)

rs193922400

rs193922400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,426,071. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCC8Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:17426071
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
Allele change: Missense_R1182Q

Associated conditions / phenotypes

Neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 2

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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