Variant (rsID / SNP)
rs201082652
rs201082652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,706,028. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC22A5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:131706028
- Cytoband
- 5q31.1
- HGVS
- NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
- Allele change
- Missense_D122Y
Associated conditions / phenotypes
Renal carnitine transport defect|Abnormality of the nervous system
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.