Variant (rsID / SNP)
rs146653693
rs146653693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 228,401. 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
- 5:228401
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.723C>T (p.Asp241=)
- Allele change
- Synonymous_D193D
Associated conditions / phenotypes
Hereditary pheochromocytoma-paraganglioma|Mitochondrial complex II deficiency, nuclear type 1|Leigh syndrome|Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.