Variant (rsID / SNP)
rs751633537
rs751633537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 218,464. 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
- 5:218464
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.-7A>C
- Allele change
- Silent
Associated conditions / phenotypes
Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Mitochondrial complex II deficiency, nuclear type 1|Hereditary pheochromocytoma-paraganglioma|Leigh syndrome|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.