Variant (rsID / SNP)
rs786202100
rs786202100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,371,286. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 1:17371286
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Paragangliomas 4|Gastrointestinal stromal tumor|Pheochromocytoma|Paragangliomas 4|Pheochromocytoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.