View gene RAD51C

A Fanconi anemia mutation database.
General information
Gene symbol RAD51C
Gene name RAD51 homolog C (S. cerevisiae)
Chromosome 17
Chromosomal band q25.1
Imprinted Unknown
Genomic reference NG_023199.1
Transcript reference NM_058216.1
Exon/intron information NM_058216.1
Associated with diseases BROVCA-3, FANCO
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Arleen D. Auerbach (curator for FA)
Total number of public variants reported 102
Unique public DNA variants reported 50
Individuals with public variants 1314
Hidden variants 0
Notes Reference sequence NG_023199.1 is identical to LRG_314
Variants associated with Fanconi anemia
Date created February 07, 2011
Date last updated April 02, 2015
Version RAD51C:150402

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/RAD51C
External URL Orphanet
Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 9820
Entrez Gene 5889
PubMed articles RAD51C
OMIM - Gene 602774
OMIM - Diseases BROVCA-3 (cancer, breast-ovarian, familial, susceptibility to, type 3 (BROVCA-3))
FANCO (Fanconi anemia, complementation group O (FANCO))
HGMD RAD51C
GeneCards RAD51C
GeneTests RAD51C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017370 17 transcript variant 1 NM_058216.1 NP_478123.1 102


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 © 2011-2016. 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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