Variant (rsID / SNP)
rs200565489
rs200565489 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 225,686. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SDHAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:225686
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.456+9C>T
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Paragangliomas 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.