NDDVD - Neurodegenerative Diseases Variation Database
MFN2 (mitofusin 2)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View MFN2 gene homepage
View graphs about the MFN2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MFN2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MFN2
View all variants in gene MFN2
Full data view for gene MFN2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MFN2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MFN2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MFN2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene MFN2
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.
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
30 entries on 1 page. Showing entries 1 - 30.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000001830
00001830
?
?
1
Y Yang
0000001831
00001831
?
?
1
Y Yang
0000001832
00001832
?
?
1
Y Yang
0000001833
00001833
?
?
1
Y Yang
0000001834
00001834
?
?
1
Y Yang
0000001835
00001835
?
?
1
Y Yang
0000001836
00001836
?
?
1
Y Yang
0000001837
00001837
?
?
1
Y Yang
0000001838
00001838
?
?
1
Y Yang
0000001839
00001839
?
?
1
Y Yang
0000001840
00001840
?
?
1
Y Yang
0000001841
00001841
?
?
1
Y Yang
0000001842
00001842
?
?
1
Y Yang
0000001843
00001843
?
?
1
Y Yang
0000001844
00001844
?
?
1
Y Yang
0000001845
00001845
?
?
1
Y Yang
0000001846
00001846
?
?
1
Y Yang
0000001847
00001847
?
?
1
Y Yang
0000001848
00001848
?
?
1
Y Yang
0000001849
00001849
?
?
1
Y Yang
0000001850
00001850
?
?
1
Y Yang
0000001851
00001851
?
?
1
Y Yang
0000001852
00001852
?
?
1
Y Yang
0000001853
00001853
?
?
1
Y Yang
0000001854
00001854
?
?
1
Y Yang
0000005619
00005607
?
?
1
XY Liu
0000005630
00005617
?
?
1
XY Liu
0000005638
00005625
?
?
1
XY Liu
0000006010
00005991
?
?
1
XY Liu
0000006572
00006549
?
?
1
XY Liu
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center