View gene FANCI

A Fanconi anemia mutation database.
General information
Gene symbol FANCI
Gene name Fanconi anemia, complementation group I
Chromosome 15
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NG_011736.1
Transcript reference NM_001113378.1
Exon/intron information NM_001113378.1
Associated with diseases FANCI
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach (curator for FA)
Total number of public variants reported 42
Unique public DNA variants reported 28
Individuals with public variants 21
Hidden variants 0
Notes Reference sequence NG_011736.1 is identical to LRG_500
Date created October 08, 2007
Date last updated October 05, 2014
Version FANCI:141005

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/FANCI
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 25568
Entrez Gene 55215
PubMed articles FANCI
OMIM - Gene 611360
OMIM - Diseases FANCI (Fanconi anemia, complementation group I (FANCI))
HGMD FANCI
GeneCards FANCI
GeneTests FANCI


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023965 15 transcript variant 1 NM_001113378.1 NP_001106849.1 42


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 © 2007-2016. 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.

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