Variant (rsID / SNP)
rs80338844
rs80338844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,663. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:111959663
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
- Allele change
- Missense_P42L
Associated conditions / phenotypes
Pheochromocytoma|Paragangliomas 1|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 1 with sensorineural hearing loss|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 1|Pheochromocytoma|Carney-Stratakis syndrome|Mitochondrial complex II deficiency, nuclear type 1|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.