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Variant (rsID / SNP)

rs142381554

PHKB

rs142381554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,694,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PHKBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:47694609
Cytoband
16q12.1
HGVS
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
Allele change
Missense_K685R

Associated conditions / phenotypes

Glycogen storage disease IXb

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.