Variant (rsID / SNP)
rs202101384
rs202101384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,371,313. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SDHBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:17371313
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
- Allele change
- Missense_D48V
Associated conditions / phenotypes
Mitochondrial complex 2 deficiency, nuclear type 4|Paragangliomas 4|Gastrointestinal stromal tumor|Pheochromocytoma|Hereditary cancer-predisposing syndrome|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.