Variant (rsID / SNP)

rs34717357

rs34717357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,695,677. Clinical significance in the table: Benign.

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Reference-table entries

PHKBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:47695677
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.2244C>G (p.Leu748=)
Allele change: Synonymous_L741L

Associated conditions / phenotypes

Glycogen storage disease IXb

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.