Variant (rsID / SNP)
rs80356669
rs80356669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to INS. Location: chromosome 11, position 2,181,150. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
INSPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:2181150
- Cytoband
- 11p15.5
- HGVS
- NM_000207.3(INS):c.265C>T (p.Arg89Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|Neonatal diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.