Variant (rsID / SNP)

rs16980929

rs16980929 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKA2. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKA2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
Allele change: Missense_G416R

Associated conditions / phenotypes

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.