Variant (rsID / SNP)
rs193922337
rs193922337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,186,164. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GCKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44186164
- Cytoband
- 7p13
- HGVS
- NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
- Allele change
- Missense_L306P
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.