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Variant (rsID / SNP)

rs1060503757

SDHB

rs1060503757 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHB. Location: chromosome 1, position 17,350,519. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHBPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
1:17350519
Cytoband
1p36.13
HGVS
NM_003000.3(SDHB):c.591del (p.Ser198fs)

Associated conditions / phenotypes

Pheochromocytoma|Pheochromocytoma|Gastrointestinal stromal tumor|Paragangliomas 4|Hereditary cancer-predisposing syndrome|Cowden syndrome|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.