Variant (rsID / SNP)

rs80266556

rs80266556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD1. Location: chromosome 1, position 115,218,549. Clinical significance in the table: Benign.

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Reference-table entries

AMPD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:115218549
Cytoband: 1p13.2
HGVS: NM_000036.3(AMPD1):c.1464G>A (p.Glu488=)
Allele change: Synonymous_E517E

Associated conditions / phenotypes

Muscle AMP deaminase deficiency

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.