Variant (rsID / SNP)

rs3823434

rs3823434 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCE. Location: chromosome 6, position 35,426,175. 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: 6:35426175
Cytoband: 6p21.31
HGVS: NM_021922.3(FANCE):c.1071C>T (p.Leu357=)
Allele change: Synonymous_L357L

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.