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Variant (rsID / SNP)

rs587782243

SDHB

rs587782243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,359,555. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHBPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:17359555
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
Allele change
Missense_G96S

Associated conditions / phenotypes

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

Public references

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