Variant (rsID / SNP)

rs12566550

rs12566550 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD1. Location: chromosome 1, position 115,229,524. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

AMPD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:115229524
Cytoband: 1p13.2
HGVS: NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys)
Allele change: Missense_R104C

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.