Variant (rsID / SNP)

rs56257827

rs56257827 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKB. Location: chromosome 16, position 47,549,473. 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: 16:47549473
Cytoband: 16q12.1
HGVS: NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
Allele change: Missense_M178I

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.