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Variant (rsID / SNP)

rs121917784

FANCC

rs121917784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 98,011,537. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FANCCPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:98011537
Cytoband
9q22.32
HGVS
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
Allele change
Nonsense_Q13X

Associated conditions / phenotypes

Fanconi anemia complementation group C|Fanconi anemia|Hereditary cancer-predisposing syndrome

Public references

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