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Variant (rsID / SNP)

rs35782247

FANCD2

rs35782247 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,089,689. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCD2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:10089689
Cytoband
3p25.3
HGVS
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
Allele change
Missense_L456R

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group D2|Hereditary breast ovarian cancer syndrome

Public references

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