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

9 entries on 1 page. Showing entries 1 - 9.

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
ALS Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG4744
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/NEFH
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/NEFH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=NEFH[gene]

- - ClinVar 2019-10-01
Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/NEFH
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/NEFH
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/NEFH
Admin
BRAINN
- - LOVD 3.X 2018-10-12
BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/NEFH
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/NEFH
Admin
BRAINN
- - LOVD 3.X 2019-11-01