Variant (rsID / SNP)

rs1057516291

rs1057516291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 98,002,937. 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: 9:98002937
Cytoband: 9q22.32
HGVS: NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
Allele change: Nonsense_W113X

Associated conditions / phenotypes

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

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.