Variant (rsID / SNP)

rs145985559

rs145985559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAM2. Location: chromosome 7, position 44,104,754. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PGAM2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:44104754
Cytoband: 7p13
HGVS: NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
Allele change: Synonymous_P125P

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.