Variant (rsID / SNP)

rs193922285

rs193922285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,184,747. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GCKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:44184747
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
Allele change: Silent

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 2|Permanent neonatal diabetes mellitus|Transient Neonatal Diabetes, Recessive|Hyperinsulinism due to glucokinase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.