Variant (rsID / SNP)
rs34677591
rs34677591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,957,665. 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
- 11:111957665
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
- Allele change
- Missense_G12S
Associated conditions / phenotypes
Cowden syndrome 3|Paragangliomas 1|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Carney-Stratakis syndrome|Mitochondrial complex 2 deficiency, nuclear type 3|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.