Variant (rsID / SNP)

rs747851434

rs747851434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,811,434. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 16:89811434
Cytoband: 16q24.3
HGVS: NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)

Associated conditions / phenotypes

Fanconi anemia complementation group A|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.