Variant (rsID / SNP)

rs2275579

rs2275579 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC29A3. Location: chromosome 10, position 73,123,076. Clinical significance in the table: Likely benign.

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Reference-table entries

SLC29A3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:73123076
Cytoband: 10q22.1
HGVS: NM_018344.6(SLC29A3):c.*711C>T
Allele change: Silent

Associated conditions / phenotypes

H syndrome

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.