LPS-responsive vesicle trafficking, beach and anchor containing [Source:HGNC Symbol;Acc:1742]
4
151185594
151936879
-1
q31.3
151185683
151936419
LRBA
LRBA-001
HGNC Symbol
HGNC transcript name
14
36.23
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
NOVEL
987
1742
LRBA
NM_001199282
27524
MSeqDR Master Exome Data Set M1: 691 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
4
151185594
T
+TTTC
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
2
4
151185613
A
+TTAT
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
6
3
4
151185624
A
+ATGATG
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
4
4
151185624
A
+ATG
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
rs35590206
-
-
-
-
-
-
het
160
5
4
151185624
A
+ATG
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
rs35590206
-
-
-
-
-
-
hom
120
6
4
151185651
A
C
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
rs11059
0.62973
-
-
-
-
-
hom
225
7
4
151185651
A
C
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
rs11059
0.62973
-
-
-
-
-
het
51
8
4
151185655
C
A
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
9
4
151185771
G
T
ENST00000510413
ENSG00000198589
151185594
151936879
ENSP00000421552
LRBA
-1
LRBA_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
10
4
151185771
G
T
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
11
4
151185931
C
T
ENST00000357115
ENSG00000198589
151185594
151936879
ENSP00000349629
LRBA
-1
LRBA_HUMAN
-
-
3'_UTR
NA
-
-
lod=552:644
-
-
-
het
1
12
4
151185931
C
T
ENST00000503716
ENSG00000198589
151185594
151936879
-
LRBA
-1
-
c.3592G>A
p.E1198K
non-syn
NA
-
-
lod=552:644
-
-
-
het
1
13
4
151185931
C
T
ENST00000509835
ENSG00000198589
151185594
151936879
ENSP00000426669
LRBA
-1
-
-
-
3'_UTR
NA
-
-
lod=552:644
-
-
-
het
1
14
4
151185931
C
T
ENST00000510413
ENSG00000198589
151185594
151936879
ENSP00000421552
LRBA
-1
LRBA_HUMAN
-
-
3'_UTR
NA
-
-
lod=552:644
-
-
-
het
1
15
4
151185931
C
T
ENST00000515096
ENSG00000198589
151185594
151936879
-
LRBA
-1
-
c.2794G>A
p.E932K
non-syn
NA
-
-
lod=552:644
-
-
-
het
1
16
4
151185931
C
T
ENST00000535741
ENSG00000198589
151185594
151936879
ENSP00000446299
LRBA
-1
-
-
-
3'_UTR
NA
-
-
lod=552:644
-
-
-
het
1
17
4
151186021
C
T
ENST00000357115
ENSG00000198589
151185594
151936879
ENSP00000349629
LRBA
-1
LRBA_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
4
151186021
C
T
ENST00000503716
ENSG00000198589
151185594
151936879
-
LRBA
-1
-
c.3502G>A
p.G1168R
non-syn
NA
-
-
-
-
-
-
het
1
19
4
151186021
C
T
ENST00000509835
ENSG00000198589
151185594
151936879
ENSP00000426669
LRBA
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
4
151186021
C
T
ENST00000510413
ENSG00000198589
151185594
151936879
ENSP00000421552
LRBA
-1
LRBA_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.
As MSeqDR registered user , your accessible protected data set after login: