Variant (rsID / SNP)
rs1060503764
rs1060503764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,349,150. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 1:17349150
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.717dup (p.Leu240fs)
Associated conditions / phenotypes
Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.