Variant (rsID / SNP)

rs137852295

rs137852295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKA2. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PHKA2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)
Allele change: Missense_K189E

Associated conditions / phenotypes

Glycogen storage disease IXa2|Glycogen storage disease IXa1

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.