Variant (rsID / SNP)

rs9462088

rs9462088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCE. Location: chromosome 6, position 35,430,686. Clinical significance in the table: Benign.

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Reference-table entries

FANCEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:35430686
Cytoband: 6p21.31
HGVS: NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)
Allele change: Missense_A502T

Associated conditions / phenotypes

Fanconi anemia complementation group E

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.