Variant (rsID / SNP)
rs148092033
rs148092033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC29A3. Location: chromosome 10, position 73,122,083. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
SLC29A3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:73122083
- Cytoband
- 10q22.1
- HGVS
- NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=)
- Allele change
- Silent
Associated conditions / phenotypes
H syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
