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Variant (rsID / SNP)

rs730881731

FANCC

rs730881731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 98,002,957. 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
9:98002957
Cytoband
9q22.32
HGVS
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
Allele change
Nonsense_Q107X

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group C

Public references

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