Variant (rsID / SNP)
rs192332761
rs192332761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,958,581. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SDHDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111958581
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss|Cowden syndrome 3|Paragangliomas 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.