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Variant (rsID / SNP)

rs104894302

SDHD

rs104894302 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,959,726. 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
11:111959726
Cytoband
11q23.1
HGVS
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
Allele change
Missense_H63L

Associated conditions / phenotypes

Paragangliomas 1|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.