Variant (rsID / SNP)
rs148311934
rs148311934 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,189,362. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GCKPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:44189362
- Cytoband
- 7p13
- HGVS
- NM_000162.5(GCK):c.676G>A (p.Val226Met)
- Allele change
- Missense_V226M
Associated conditions / phenotypes
Maturity-onset diabetes of the young type 2|Maturity-onset diabetes of the young type 2|Type 2 diabetes mellitus|Permanent neonatal diabetes mellitus|Hyperinsulinism due to glucokinase deficiency|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.