Variant (rsID / SNP)

rs121912583

rs121912583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC29A3. Location: chromosome 10, position 73,122,216. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC29A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:73122216
Cytoband: 10q22.1
HGVS: NM_018344.6(SLC29A3):c.1279G>A (p.Gly427Ser)
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.