Variant (rsID / SNP)

rs121912682

rs121912682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD1. Location: chromosome 1, position 115,220,086. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AMPD1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:115220086
Cytoband: 1p13.2
HGVS: NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
Allele change: Missense_R454H

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.