View gene FANCA

A Fanconi anemia mutation database.
General information
Gene symbol FANCA
Gene name Fanconi anemia, complementation group A
Chromosome 16
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_011706.1
Transcript reference NM_000135.2
Exon/intron information NM_000135.2
Associated with diseases FANCA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach (curator for FA)
Total number of public variants reported 1722
Unique public DNA variants reported 594
Individuals with public variants 956
Hidden variants 1
Notes Reference sequence NG_011706.1 is identical to LRG_495
Date created May 20, 2005
Date last updated August 03, 2015
Version FANCA:150803

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/FANCA
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 3582
Entrez Gene 2175
PubMed articles FANCA
OMIM - Gene 607139
OMIM - Diseases FANCA (Fanconi anemia, complementation group A (FANCA))
HGMD FANCA
GeneCards FANCA
GeneTests FANCA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007720 16 transcript variant 1 NM_000135.2 NP_000126.2 1723


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 © 2005-2016. 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.