The ATL1 gene homepage - Global Variome shared LOVD (original) (raw)

The ATL1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)

General information
Gene symbol ATL1
Gene name atlastin GTPase 1
Chromosome 14
Chromosomal band q21.3
Imprinted Unknown
Genomic reference NG_009028.1
Transcript reference NM_015915.4
Exon/intron information NM_015915.4 exon/intron table
Associated with diseases HSN1D, SPG3A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 804
Unique public DNA variants reported 132
Individuals with public variants 721
Hidden variants 10
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.We gratefully acknowledge the role of Christian Beetz in curating this database (2016-2018).
Date created May 23, 2012
Date last updated January 21, 2025
Version ATL1:250121
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015915.4.
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
Homepage URL http://www.LOVD.nl/ATL1
HGNC HGNC:11231
Entrez Gene 51062
PubMed articles ATL1
OMIM - Gene 606439
OMIM - Diseases HSN1D (neuropathy, sensory, hereditary, type ID (HSN-1D))SPG3A (paraplegia, spastic, autosomal dominant, type 3A (SPG-3A))
HGMD ATL1
GeneCards ATL1
NIH Genetic Testing Registry ATL1
Orphanet ATL1

Active transcripts

Legend

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How to query this table

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Operator Column type Example Matches
Text Arg all entries containing 'Arg'
space Text Arg Ser all entries containing 'Arg' and 'Ser'
| Text Arg|Ser all entries containing 'Arg' or 'Ser'
! Text !fs all entries not containing 'fs'
^ Text ^p.(Arg all entries beginning with 'p.(Arg'
$ Text Ser)$ all entries ending with 'Ser)'
="" Text ="" all entries with this field empty
="" Text ="p.0" all entries exactly matching 'p.0'
!="" Text !="" all entries with this field not empty
!="" Text !="p.0" all entries not exactly matching 'p.0?'
combination Text *|Ter !fs all entries containing '*' or 'Ter' but not containing 'fs'
Date 2020 all entries matching the year 2020
| Date 2020-03|2020-04 all entries matching March or April, 2020
! Date !2020-03 all entries not matching March, 2020
< Date <2020 all entries before the year 2020
<= Date <=2020-06 all entries in or before June, 2020
> Date >2020-06 all entries after June, 2020
>= Date >=2020-06-15 all entries on or after June 15th, 2020
combination Date 2019|2020 <2020-03 all entries in 2019 or 2020, and before March, 2020
Numeric 23 all entries exactly matching 23
| Numeric 23|24 all entries exactly matching 23 or 24
! Numeric !23 all entries not exactly matching 23
< Numeric <23 all entries lower than 23
<= Numeric <=23 all entries lower than, or equal to, 23
> Numeric >23 all entries higher than 23
>= Numeric >=23 all entries higher than, or equal to, 23
combination Numeric >=20 <30 !23 all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example Matches
Asian all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian" all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

ID Chr Name NCBI ID NCBI Protein ID DescendingVariants
00023895 14 transcript variant 1 NM_015915.4 NP_056999.2 804
Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2025. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

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