Variant (rsID / SNP)
rs141322087
rs141322087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8. Location: chromosome 11, position 17,426,099. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ABCC8Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17426099
- Cytoband
- 11p15.1
- HGVS
- NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
- Allele change
- Missense_V1173M
Associated conditions / phenotypes
Neonatal diabetes mellitus|12 conditions|Permanent neonatal diabetes mellitus|Monogenic diabetes|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.