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Variant (rsID / SNP)

rs117706710

AMPD3

rs117706710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMPD3. Location: chromosome 11, position 10,508,903. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AMPD3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:10508903
Cytoband
11p15.4
HGVS
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)
Allele change
Missense_V152L

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.