Variant (rsID / SNP)
rs140222511
rs140222511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPART. Location: chromosome 13, position 36,903,508. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SPARTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:36903508
- Cytoband
- 13q13.3
- HGVS
- NM_015087.5(SPART):c.1155T>G (p.Arg385=)
- Allele change
- Synonymous_R385R
Associated conditions / phenotypes
Troyer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.