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Variant (rsID / SNP)

rs146000615

AMPD3

rs146000615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD3. Location: chromosome 11, position 10,521,644. Clinical significance in the table: Uncertain_significance.

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Reference-table entries

AMPD3Uncertain significance
Clinical significance (as recorded)
Uncertain_significance
Variant type
missense_variant
Chromosome / position
11:10521644
HGVS
NM_000480.3,c.1596T>G,p.Phe532Leu
Allele change
Missense_F364L

Associated conditions / phenotypes

Erythrocyte Amp Deaminase Deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.