Variant (rsID / SNP)
rs753100200
rs753100200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TTC19. Location: chromosome 17, position 15,902,985. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TTC19Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:15902985
- Cytoband
- 17p12
- HGVS
- NM_001042697.2(ZSWIM7):c.-77G>A
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex III deficiency nuclear type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
