FANCB Chromosome X
FA complementation group B
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What This Gene Does
This gene encodes a member of the Fanconi anemia complementation group B. This protein is assembled into a nucleoprotein complex that is involved in the repair of DNA lesions. Mutations in this gene can cause chromosome instability and VACTERL syndrome with hydrocephalus. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000181544
Associated Conditions (13)
Fanconi anemia
Inborn genetic diseases
VACTERL association
X-linked
with or without hydrocephalus
Fanconi anemia complementation group B
Glioma susceptibility 1
FANCB-related disorder
Multiple congenital anomalies/dysmorphic syndrome
History of neurodevelopmental disorder
Fanconi anemia complementation group A
Malignant tumor of breast
Nonpapillary renal cell carcinoma
Key Variants
RS1041477988
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1057515807
Conflicting classifications of pathogenicity
VACTERL association, X-linked, with or without hydrocephalus
Health Risk
RS1209013786
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1270593506
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group B, Fanconi anemia
Health Risk
RS1295003944
Conflicting classifications of pathogenicity
Fanconi anemia, Glioma susceptibility 1, Fanconi anemia complementation group B
Health Risk
RS1312589379
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1317100453
Conflicting classifications of pathogenicity
Fanconi anemia complementation group B, VACTERL association, X-linked
Health Risk
RS1364046604
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group B, FANCB-related disorder
Health Risk
RS138192474
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS140363445
Conflicting classifications of pathogenicity
Fanconi anemia, VACTERL association, X-linked
Health Risk
RS142289802
Conflicting classifications of pathogenicity
Fanconi anemia complementation group B, VACTERL association, X-linked
Health Risk
RS142304943
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia complementation group B
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879254329 | Health Risk | Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS1064793758 | Health Risk | Pathogenic | — |
| RS1161918267 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1569083185 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1569083464 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1569083679 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1569085810 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1601976527 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1601976655 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1601977379 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1601977844 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1601977912 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1602005062 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1602005335 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1602005463 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1602006627 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS1602006737 | Health Risk | Pathogenic | Fanconi anemia complementation group B, Fanconi anemia complementation group B |
| RS2147404831 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2518988414 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2519011748 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2147445599 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group B, Fanconi anemia |
| RS2519009603 | Health Risk | Pathogenic/Likely pathogenic | FANCB-related disorder, Fanconi anemia, FANCB-related disorder |