Variant (rsID / SNP)

rs187710792

rs187710792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHKG2. Location: chromosome 16, position 30,767,531. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHKG2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:30767531
Cytoband: 16p11.2
HGVS: NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
Allele change: Synonymous_A195A

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.