Variant (rsID / SNP)
rs1060503769
rs1060503769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,965,529. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111965529
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
- Allele change
- Nonsense_W66X
Associated conditions / phenotypes
Pheochromocytoma|Paragangliomas 1|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Pheochromocytoma|Cowden syndrome 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.