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Variant (rsID / SNP)

rs116736407

FANCD2

rs116736407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,084,831. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCD2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:10084831
Cytoband
3p25.3
HGVS
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
Allele change
Missense_A329G

Associated conditions / phenotypes

Fanconi anemia

Public references

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