Variant (rsID / SNP)

rs193922407

rs193922407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,415,288. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ABCC8Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:17415288
Cytoband: 11p15.1
HGVS: NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)
Allele change: Missense_V1522M

Associated conditions / phenotypes

Neonatal diabetes mellitus

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.