Variant (rsID / SNP)

rs61752478

rs61752478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD1. Location: chromosome 1, position 115,221,116. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AMPD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:115221116
Cytoband: 1p13.2
HGVS: NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)
Allele change: Missense_M339I

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.