Variant (rsID / SNP)

rs730881709

rs730881709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 97,873,771. 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: Duplication
Chromosome / position: 9:97873771
Cytoband: 9q22.32
HGVS: NM_000136.3(FANCC):c.1302dup (p.Gly435fs)

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group C

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.