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Variant (rsID / SNP)

rs727503415

SDHB

rs727503415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,359,564. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SDHBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:17359564
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
Allele change
Missense_C93R

Associated conditions / phenotypes

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

Public references

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