Variant (rsID / SNP)
rs202198133
rs202198133 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,626. 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
- 11:111959626
- Cytoband
- 11q23.1
- HGVS
- NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
- Allele change
- Missense_E30K
Associated conditions / phenotypes
Mitochondrial complex 2 deficiency, nuclear type 3|Cowden syndrome 3|Carney-Stratakis syndrome|Pheochromocytoma|Paragangliomas 1|Mitochondrial complex II deficiency, nuclear type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.