Variant (rsID / SNP)
rs193922335
rs193922335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,186,210. Clinical significance in the table: Pathogenic.
Reference-table entries
GCKPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44186210
- Cytoband
- 7p13
- HGVS
- NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
- Allele change
- Nonsense_K291X
Associated conditions / phenotypes
Maturity-onset diabetes of the young type 2|Diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.