Variant (rsID / SNP)

rs193922338

rs193922338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,186,137. 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: 7:44186137
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.944T>A (p.Leu315His)
Allele change: Missense_L315H

Associated conditions / phenotypes

Maturity-onset diabetes of the young type 2

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.