Variant (rsID / SNP)
rs876658461
rs876658461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,470. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SDHBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:17350470
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
- Allele change
- Nonsense_Q214X
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Paragangliomas 4|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas 4|Hereditary pheochromocytoma-paraganglioma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.