Variant (rsID / SNP)

rs137852294

rs137852294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKA2. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKA2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
Allele change: Missense_R186C

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.