Variant (rsID / SNP)

rs193922300

rs193922300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GCK. Location: chromosome 7, position 44,190,581. 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: 7:44190581
Cytoband: 7p13
HGVS: NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
Allele change: Missense_P153S

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.