MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
AFG3L2 (AFG3-like AAA ATPase 2)
LOVD v.3.0 Build 21 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View AFG3L2 gene homepage
View graphs about the AFG3L2 gene database
View all transcripts
View all transcripts of gene AFG3L2
View all genomic variants
View all variants affecting transcripts
View unique variants in gene AFG3L2
View all variants in gene AFG3L2
Full data view for gene AFG3L2
View all individuals
View all individuals with variants in gene AFG3L2
View all diseases
View all diseases associated with gene AFG3L2
View all screenings
View all screenings for gene AFG3L2
Submit new data
AFG3L2 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
AFG3L2
Gene name
AFG3-like AAA ATPase 2
Chromosome
18
Chromosomal band
p11.21
Imprinted
Unknown
Genomic reference
NC_000018.9
Transcript reference
NM_006796.2
Associated with diseases
SCA28
Citation reference(s)
-
Curators (0)
-
Total number of public variants reported
14
Unique public DNA variants reported
14
Individuals with public variants
0
Hidden variants
0
Download all this gene's data
Download all data
Notes
MSeqDR-LSDB
Date created
November 07, 2013
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
HGNC
315
Entrez Gene
10939
PubMed articles
AFG3L2
OMIM - Gene
604581
OMIM - Diseases
SCA28 (SPINOCEREBELLAR ATAXIA 28)
HGMD
AFG3L2
GeneCards
AFG3L2
GeneTests
AFG3L2
Active transcripts
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00000022
18
AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
NM_006796.2
NP_006787.2
14
Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
Powered by
LOVD v.3.0
Build 21
LOVD software ©2004-2018
Leiden University Medical Center