Variant (rsID / SNP)

rs201601894

rs201601894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKA1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PHKA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn)
Allele change: Missense_D160N

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.