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Variant (rsID / SNP)

rs104894309

SDHD

rs104894309 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,957,664. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHDPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:111957664
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
Allele change
Nonsense_C11X

Associated conditions / phenotypes

Pheochromocytoma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas 1

Public references

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