Variant (rsID / SNP)

rs137852547

rs137852547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKA1. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_002637.4(PHKA1):c.896A>T (p.Asp299Val)
Allele change: Missense_D299V

Associated conditions / phenotypes

Glycogen storage disease IXd

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.