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Variant (rsID / SNP)

rs104894304

SDHD

rs104894304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,965,555. 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
11:111965555
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
Allele change
Missense_Y75C

Associated conditions / phenotypes

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

Public references

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