Variant (rsID / SNP)
rs80338842
rs80338842 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,957,634. Clinical significance in the table: Pathogenic.
Reference-table entries
SDHDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111957634
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
- Allele change
- Missense_M1I
Associated conditions / phenotypes
Paragangliomas 1|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.