Variant (rsID / SNP)

rs200161949

rs200161949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCB. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.2
HGVS: NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)
Allele change: Missense_I330T

Associated conditions / phenotypes

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.