Variant (rsID / SNP)

rs144798843

rs144798843 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,192,032. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GCKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:44192032
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.209-8G>A
Allele change: Silent

Associated conditions / phenotypes

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

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.