Variant (rsID / SNP)

rs56207641

rs56207641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKG2. Location: chromosome 16, position 30,762,505. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKG2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:30762505
Cytoband: 16p11.2
HGVS: NM_000294.3(PHKG2):c.174A>T (p.Thr58=)
Allele change: Synonymous_T58T

Associated conditions / phenotypes

Glycogen storage disease IXc

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.