Variant (rsID / SNP)

rs1057517818

rs1057517818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SDHC. Location: chromosome 1, position 161,298,288. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SDHCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:161298288
Cytoband: 1q23.3
HGVS: NM_003001.5(SDHC):c.179+1G>C
Allele change: Silent

Associated conditions / phenotypes

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