Variant (rsID / SNP)

rs201286421

rs201286421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHC. Location: chromosome 1, position 161,293,426. Clinical significance in the table: Pathogenic.

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Reference-table entries

SDHCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:161293426
Cytoband: 1q23.3
HGVS: NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
Allele change: Silent

Associated conditions / phenotypes

Paragangliomas 3|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 3|Gastrointestinal stromal tumor

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.