Variant (rsID / SNP)

rs587776652

rs587776652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHC. Location: chromosome 1, position 161,284,198. 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: 1:161284198
Cytoband: 1q23.3
HGVS: NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
Allele change: Silent

Associated conditions / phenotypes

Paragangliomas 3|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.