latent transforming growth factor beta binding protein 2 [Source:HGNC Symbol;Acc:6715]
14
74964873
75079306
-1
q24.3
74964873
75079034
LTBP2
LTBP2-001
HGNC Symbol
HGNC transcript name
7
51.71
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
4053
6715
LTBP2
NM_000428
27520
MSeqDR Master Exome Data Set M1: 349 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
14
74964903
T
C
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs74384554
0.008
-
lod=91:451
-
-
-
het
4
2
14
74965434
A
G
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs113879332
0.0401
-
-
-
-
-
het
1
3
14
74965630
T
C
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs73296215
0.0562
-
lod=17:272
-
-
-
het
4
4
14
74965714
G
C
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs77847288
0.04495
-
lod=25:313
-
-
-
het
14
5
14
74965714
G
C
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs77847288
0.04495
-
lod=25:313
-
-
-
hom
1
6
14
74965769
G
A
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs1052939
0.4703
-
-
-
-
-
hom
12
7
14
74965769
G
A
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs1052939
0.4703
-
-
-
-
-
het
81
8
14
74965956
G
A
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs183119073
0.0014
-
-
-
-
-
het
1
9
14
74966285
C
+GAA
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
10
14
74966763
G
A
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs7569
0.41544
-
-
-
-
-
het
110
11
14
74966763
G
A
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
rs7569
0.41544
-
-
-
-
-
hom
29
12
14
74967356
C
T
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=92:452
-
-
-
het
1
13
14
74967356
C
T
ENST00000553939
ENSG00000119681
74964873
75079306
ENSP00000452110
LTBP2
-1
-
-
-
3'_UTR
NA
-
-
lod=92:452
-
-
-
het
1
14
14
74967576
A
+C
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
15
14
74967576
A
+C
ENST00000553939
ENSG00000119681
74964873
75079306
ENSP00000452110
LTBP2
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
14
74967576
A
+C
ENST00000554861
ENSG00000119681
74964873
75079306
-
LTBP2
-1
-
c.694_695insG
p.V232NA
non-syn
NA
-
-
-
-
-
-
het
1
17
14
74967576
A
+C
ENST00000556690
ENSG00000119681
74964873
75079306
ENSP00000451477
LTBP2
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
14
74967651
C
T
ENST00000261978
ENSG00000119681
74964873
75079306
ENSP00000261978
LTBP2
-1
LTBP2_HUMAN
c.5402G>A
p.R1801H
non-syn
rs143010135
-
T=4/C=8596;T=0/C=4406;T=4/C=13002
lod=175:521
DAMAGING
D
-
het
1
19
14
74967651
C
T
ENST00000553939
ENSG00000119681
74964873
75079306
ENSP00000452110
LTBP2
-1
-
-
-
3'_UTR
rs143010135
-
T=4/C=8596;T=0/C=4406;T=4/C=13002
lod=175:521
DAMAGING
D
-
het
1
20
14
74967651
C
T
ENST00000554861
ENSG00000119681
74964873
75079306
-
LTBP2
-1
-
c.620G>A
p.R207H
non-syn
rs143010135
-
T=4/C=8596;T=0/C=4406;T=4/C=13002
lod=175:521
DAMAGING
D
-
het
1
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