FANCL Chromosome 2
FA complementation group L
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What This Gene Does
This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]
Gene Info
Gene Group
"PHD finger proteins|FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000115392
Associated Conditions (11)
Fanconi anemia
Fanconi anemia complementation group L
FANCL-related disorder
Inborn genetic diseases
Premature ovarian insufficiency
Fanconi anemia complementation group A
Squamous cell lung carcinoma
VATER association
VACTERL association
X-linked
with or without hydrocephalus
Key Variants
RS1186009937
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia
Health Risk
RS140088149
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, FANCL-related disorder
Health Risk
RS143819820
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, FANCL-related disorder
Health Risk
RS144729980
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia
Health Risk
RS151181785
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia
Health Risk
RS1690571577
Conflicting classifications of pathogenicity
Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L
Health Risk
RS199966372
Conflicting classifications of pathogenicity
Fanconi anemia complementation group L, Inborn genetic diseases, Fanconi anemia
Health Risk
RS200819615
Conflicting classifications of pathogenicity
Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L
Health Risk
RS2467109377
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia
Health Risk
RS544425912
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS551828597
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS55849827
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group L, FANCL-related disorder
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1685876126 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS1693048371 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia |
| RS2104795249 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS2466549385 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS2467657340 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia |
| RS529201454 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS756420413 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS761039364 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia, Fanconi anemia complementation group L |
| RS763615183 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, Fanconi anemia, Fanconi anemia complementation group L |
| RS764407713 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia |
| RS768814501 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group L, Fanconi anemia |
| RS869320685 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group L, VACTERL association, X-linked |