Variant (rsID / SNP)

rs147675860

rs147675860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCD2. Location: chromosome 3, position 10,128,928. 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: 3:10128928
Cytoband: 3p25.3
HGVS: NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val)
Allele change: Missense_A1149V

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.