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Variant (rsID / SNP)

rs727504457

SDHB

rs727504457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,359,581. 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
1:17359581
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
Allele change
Missense_L87S

Associated conditions / phenotypes

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

Public references

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