Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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Information Currently active filter: LSDBs for gene COL4A5. Remove filter

7 entries on 1 page. Showing entries 1 - 7.
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Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/COL4A5
Judy Savige
University Melbourne
Rating: 4Rating: 4Rating: 4Rating: 4 1667 LOVD 3.X 2024-04-19
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=COL4A5[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 2656 ClinVar 2024-04-06

http://db.cshg.org.cy/genes/COL4A5
Anastasia Raoukka & Carsten W Lederer & Savvas Nikolaou
The Cyprus Institute of Neurology & Genetics
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology and Genetics
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2016-06-23
MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/COL4A5
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2013-12-10
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/COL4A5
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
ALPORT syndrome and COL4A5 gene Database
http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php
Genevieve Pont-Kingdon, PhD
ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/COL4A5
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-17
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