Variant (rsID / SNP)
rs74315368
rs74315368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,349,143. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
SDHBPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:17349143
- Cytoband
- 1p36.13
- HGVS
- NM_003000.3(SDHB):c.725G>A (p.Arg242His)
- Allele change
- Missense_R242H
Associated conditions / phenotypes
Pheochromocytoma|Paragangliomas 4|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Pheochromocytoma|Paragangliomas 4|Gastrointestinal stromal tumor|SDHB-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.