Variant (rsID / SNP)
rs876658367
rs876658367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,523. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:17350523
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
- Allele change
- Missense_C196Y
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Paragangliomas 4|Hereditary pheochromocytoma-paraganglioma|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.