Variant (rsID / SNP)

rs121918022

rs121918022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,536,948. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PHKBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:47536948
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
Allele change: Missense_A111P

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.