MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
ABHD5 (abhydrolase domain containing 5)
LOVD v.3.0 Build 21 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View ABHD5 gene homepage
View graphs about the ABHD5 gene database
View all transcripts
View all transcripts of gene ABHD5
View all genomic variants
View all variants affecting transcripts
View unique variants in gene ABHD5
View all variants in gene ABHD5
Full data view for gene ABHD5
View all individuals
View all individuals with variants in gene ABHD5
View all diseases
View all diseases associated with gene ABHD5
View all screenings
View all screenings for gene ABHD5
Submit new data
ABHD5 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
ABHD5
Gene name
abhydrolase domain containing 5
Chromosome
3
Chromosomal band
p21.33
Imprinted
Unknown
Genomic reference
NC_000003.11
Transcript reference
NM_016006.4
Associated with diseases
-
Citation reference(s)
-
Curators (0)
-
Total number of public variants reported
0
Unique public DNA variants reported
0
Individuals with public variants
0
Hidden variants
0
Download all this gene's data
Download all data
Notes
MSeqDR-LSDB
Date created
November 12, 2013
Links to other resources
HGNC
21396
Entrez Gene
51099
PubMed articles
ABHD5
OMIM - Gene
604780
HGMD
ABHD5
GeneCards
ABHD5
GeneTests
ABHD5
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
00000373
3
abhydrolase domain containing 5
NM_016006.4
NP_057090.2
0
Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
Powered by
LOVD v.3.0
Build 21
LOVD software ©2004-2018
Leiden University Medical Center