Variant (rsID / SNP)
rs149730980
rs149730980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPART. Location: chromosome 13, position 36,909,608. 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
- 13:36909608
- Cytoband
- 13q13.3
- HGVS
- NM_015087.5(SPART):c.360A>G (p.Lys120=)
- Allele change
- Synonymous_K120K
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.