Variant (rsID / SNP)

rs587782210

rs587782210 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHD. Location: chromosome 11, position 111,958,683. 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: 11:111958683
Cytoband: 11q23.1
HGVS: NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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