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Variant (rsID / SNP)

rs786202403

SDHD

rs786202403 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,725. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHDPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:111959725
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
Allele change
Missense_H63N

Associated conditions / phenotypes

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

Public references

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