Variant (rsID / SNP)
rs144723656
rs144723656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,189,393. Clinical significance in the table: Pathogenic.
Reference-table entries
GCKPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44189393
- Cytoband
- 7p13
- HGVS
- NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)
- Allele change
- Nonsense_Y215X
Associated conditions / phenotypes
Maturity-onset diabetes of the young type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.