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Variant (rsID / SNP)

rs786203457

SDHC

rs786203457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHC. Location: chromosome 1, position 161,326,605. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SDHCPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:161326605
Cytoband
1q23.3
HGVS
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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