Variant (rsID / SNP)
rs876658540
rs876658540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,544. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SDHBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:17350544
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
- Allele change
- Missense_C189F
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|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.
