Variant (rsID / SNP)

rs139431568

rs139431568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,533,770. 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: 16:47533770
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.270C>T (p.Cys90=)
Allele change: Synonymous_C83C

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.