FANCL gene homepage

A Fanconi anemia mutation database.
General information
Gene symbol FANCL
Gene name Fanconi anemia, complementation group L
Chromosome 2
Chromosomal band p16.1
Imprinted Unknown
Genomic reference NG_007418.1
Transcript reference NM_018062.3
Exon/intron information NM_018062.3 exon/intron table
Associated with diseases FANCL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach
Total number of public variants reported 41
Unique public DNA variants reported 27
Individuals with public variants 17
Hidden variants 7
Date created January 08, 2005
Date last updated December 07, 2019
Version FANCL:191207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018062.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 20748
Entrez Gene 55120
PubMed articles FANCL
OMIM - Gene 608111
OMIM - Diseases FANCL (Fanconi anemia, complementation group L (FANCL))
GeneCards FANCL
GeneTests FANCL

Active transcripts




NCBI ID     

NCBI Protein ID     

00007728 2 transcript variant 2 NM_018062.3 NP_060532.2 41

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2005-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.