Variant (rsID / SNP)

rs104894030

rs104894030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAM2. Location: chromosome 7, position 44,104,863. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PGAM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:44104863
Cytoband: 7p13
HGVS: NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
Allele change: Missense_E89A

Associated conditions / phenotypes

Glycogen storage disease type X

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.