Variant (rsID / SNP)
rs190139590
rs190139590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,355,075. 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
- 1:17355075
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.423+20T>A
- Allele change
- Silent
Associated conditions / phenotypes
Paragangliomas 4|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4|Gastrointestinal stromal tumor|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.