Variant (rsID / SNP)

rs75283041

rs75283041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD3. Location: chromosome 11, position 10,514,916. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AMPD3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:10514916
Cytoband: 11p15.4
HGVS: NM_001025389.2(AMPD3):c.960G>A (p.Ala320=)
Allele change: Synonymous_A161A

Associated conditions / phenotypes

Erythrocyte 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.