Variant (rsID / SNP)

rs104886458

rs104886458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCC. Location: chromosome 9, position 97,864,005. 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: 9:97864005
Cytoband: 9q22.32
HGVS: NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
Allele change: Missense_L554P

Associated conditions / phenotypes

Fanconi anemia complementation group C|Fanconi anemia

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.