Variant (rsID / SNP)
rs201372601
rs201372601 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,965,693. 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
- 11:111965693
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)
- Allele change
- Missense_X121L
Associated conditions / phenotypes
Mitochondrial complex 2 deficiency, nuclear type 3|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Cowden syndrome 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.