Variant (rsID / SNP)
rs200420073
rs200420073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMPO. Location: chromosome 12, position 98,921,742. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TMPOConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:98921742
- Cytoband
- 12q23.1
- HGVS
- NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile)
- Allele change
- Missense_L120I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
