Variant (rsID / SNP)

rs80356655

rs80356655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,187,429. Clinical significance in the table: Pathogenic.

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Reference-table entries

GCKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:44187429
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.683C>T (p.Thr228Met)
Allele change: Missense_T228M

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 2|Permanent neonatal diabetes mellitus 1

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.