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Variant (rsID / SNP)

rs786205147

SDHC

rs786205147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHC. Location: chromosome 1, position 161,310,428. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SDHCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:161310428
Cytoband
1q23.3
HGVS
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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