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Variant (rsID / SNP)

rs587776649

SDHD

rs587776649 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,958,585. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHDPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
11:111958585
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.57del (p.Leu20fs)

Associated conditions / phenotypes

Carney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 1|Cowden syndrome 3|Carney-Stratakis syndrome|Pheochromocytoma

Public references

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