Variant (rsID / SNP)
rs121908983
rs121908983 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,698. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:111959698
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
Associated conditions / phenotypes
Paragangliomas 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.