Locus Specific Mutation Databases

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

Please select the first letter of the Gene:
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Or, specify the HGNC Gene Symbol:

International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: LSDBs for gene L1CAM. Remove filter

10 entries on 1 page. Showing entries 1 - 10.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/L1CAM/home.php?select_db=L1CAM
Yvonne Vos
University Medical Center Groningen
- - LOVD 2.X 2009-11-12
L1CAM Mutation Web Page
http://www.l1cammutationdatabase.info
Yvonne Vos
University Medical Center Groningen, The Netherlands
- - Other Unknown
HSP Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG3897
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
- - Other 0000-00-00
Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1CAM
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-07-12
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1CAM[gene]

- - ClinVar 2019-11-05
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/L1CAM
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2017-10-26
BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2018-11-17
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2019-11-01
BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2019-11-01