Variant (rsID / SNP)

rs193922254

rs193922254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,186,078. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GCKPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 7:44186078
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.1003del (p.Val335fs)

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.