Variant (rsID / SNP)
rs33927012
rs33927012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,354,297. 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
- 1:17354297
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
- Allele change
- Missense_S163P
Associated conditions / phenotypes
Cowden syndrome|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Pheochromocytoma|Paragangliomas 4|Paragangliomas 4|Hereditary pheochromocytoma-paraganglioma|Gastrointestinal stromal tumor|Carney-Stratakis syndrome|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.