Variant (rsID / SNP)

rs145099733

rs145099733 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,108,987. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FANCD2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:10108987
Cytoband: 3p25.3
HGVS: NM_001018115.3(FANCD2):c.2480A>C (p.Glu827Ala)
Allele change: Missense_E827A

Associated conditions / phenotypes

Fanconi anemia complementation group D2|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.