Variant (rsID / SNP)

rs121917783

rs121917783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 97,912,338. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:97912338
Cytoband: 9q22.32
HGVS: NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)
Allele change: Nonsense_R185X

Associated conditions / phenotypes

Fanconi anemia complementation group C|Fanconi anemia|Hereditary cancer-predisposing syndrome|Malignant tumor of breast

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.