Variant (rsID / SNP)

rs9934849

rs9934849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,703,157. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:47703157
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.2459A>T (p.Glu820Val)
Allele change: Missense_E813V

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.