Variant (rsID / SNP)

rs202167409

rs202167409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,536,987. Clinical significance in the table: Likely benign.

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Reference-table entries

PHKBLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:47536987
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.391C>T (p.Arg131Cys)
Allele change: Missense_R124C

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.