Variant (rsID / SNP)

rs132630330

rs132630330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GK. Clinical significance in the table: Pathogenic.

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Reference-table entries

GKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_001205019.2(GK):c.1525T>C (p.Trp509Arg)
Allele change: Missense_W509R

Associated conditions / phenotypes

Deficiency of glycerol kinase

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.