Variant (rsID / SNP)

rs45529443

rs45529443 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADK. Location: chromosome 10, position 76,285,195. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ADKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:76285195
Cytoband: 10q22.2
HGVS: NM_006721.4(ADK):c.726+11T>G
Allele change: Silent

Associated conditions / phenotypes

Adenosine kinase 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.