Variant (rsID / SNP)
rs142441643
rs142441643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHA. Location: chromosome 5, position 223,624. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:223624
- Cytoband
- 5p15.33
- HGVS
- NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
- Allele change
- Nonsense_R31X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Paragangliomas 5|Carney triad|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 5|Pilocytic astrocytoma|Mitochondrial complex II deficiency, nuclear type 1|Dilated cardiomyopathy 1GG|Paragangliomas 5|Leigh syndrome|Leigh syndrome|Rhabdomyosarcoma|Mitochondrial complex II deficiency, nuclear type 1|Gastrointestinal stromal tumor
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.