Variant (rsID / SNP)
rs193922268
rs193922268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,185,192. 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
- 7:44185192
- Cytoband
- 7p13
- HGVS
- NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
- Allele change
- Missense_L386P
Associated conditions / phenotypes
Maturity-onset diabetes of the young type 2|Maturity onset diabetes mellitus in young
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.