Variant (rsID / SNP)

rs786203800

rs786203800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,380,489. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:17380489
Cytoband: 1p36.13
HGVS: NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
Allele change: Nonsense_L9X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.