Variant (rsID / SNP)

rs201811817

rs201811817 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,115,047. Clinical significance in the table: Pathogenic.

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Reference-table entries

FANCD2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:10115047
Cytoband: 3p25.3
HGVS: NM_001018115.3(FANCD2):c.2715+1G>A
Allele change: Silent

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group D2

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.