low density lipoprotein receptor-related protein 5 [Source:HGNC Symbol;Acc:6697]
11
68080077
68216743
1
q13.2
68080077
68216743
LRP5
LRP5-001
HGNC Symbol
HGNC transcript name
7
54.62
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
4041
6697
LRP5
NM_002335
27504
MSeqDR Master Exome Data Set M1: 248 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
11
68080161
G
-C
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
-
-
5'_UTR
NA
-
-
lod=125:485
-
-
-
het
1
2
11
68080161
G
-C
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
-
-
5'_UTR
NA
-
-
lod=125:485
-
-
-
het
1
3
11
68080214
C
+GCT
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.32_33insGCT
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
het
29
4
11
68080214
C
+GCT
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.32_33insGCT
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
hom
1
5
11
68080214
C
-GCT
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.33_35del
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
het
1
6
11
68080214
C
+GCT
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.32_33insGCT
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
het
29
7
11
68080214
C
+GCT
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.32_33insGCT
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
hom
1
8
11
68080214
C
-GCT
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.33_35del
p.P11NA
non-syn
NA
-
-
lod=125:485
-
-
-
het
1
9
11
68115360
T
G
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.137T>G
p.V46G
non-syn
NA
-
-
lod=203:537
DAMAGING
D
-
hom
1
10
11
68115360
T
G
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.137T>G
p.V46G
non-syn
NA
-
-
lod=203:537
DAMAGING
D
-
het
11
11
11
68115360
T
G
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.137T>G
p.V46G
non-syn
NA
-
-
lod=203:537
DAMAGING
D
-
hom
1
12
11
68115360
T
G
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.137T>G
p.V46G
non-syn
NA
-
-
lod=203:537
DAMAGING
D
-
het
11
13
11
68115489
A
G
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.266A>G
p.Q89R
non-syn
rs41494349
0.0453
G=47/A=8541;G=13/A=4387;G=60/A=12928
lod=357:597
TOLERATED
B
Lower femoral neck bone mineral density, association with
het
11
14
11
68115489
A
G
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.266A>G
p.Q89R
non-syn
rs41494349
0.0453
G=47/A=8541;G=13/A=4387;G=60/A=12928
lod=357:597
TOLERATED
B
Lower femoral neck bone mineral density, association with
het
11
15
11
68115514
C
T
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.291C>T
p.A97A
syn
rs146667935
-
T=9/C=8579;T=1/C=4399;T=10/C=12978
-
-
-
-
het
1
16
11
68115514
C
T
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.291C>T
p.A97A
syn
rs146667935
-
T=9/C=8579;T=1/C=4399;T=10/C=12978
-
-
-
-
het
1
17
11
68115518
G
A
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.295G>A
p.V99M
non-syn
NA
-
-
lod=32:340
TOLERATED
B
-
het
1
18
11
68115518
G
A
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.295G>A
p.V99M
non-syn
NA
-
-
lod=32:340
TOLERATED
B
-
het
1
19
11
68115526
C
T
ENST00000294304
ENSG00000162337
68080077
68216743
ENSP00000294304
LRP5
1
LRP5_HUMAN
c.303C>T
p.N101N
syn
NA
-
T=1/C=8587;T=0/C=4400;T=1/C=12987
lod=42:369
-
-
-
het
2
20
11
68115526
C
T
ENST00000529993
ENSG00000162337
68080077
68216743
ENSP00000436652
LRP5
1
-
c.303C>T
p.N101N
syn
NA
-
T=1/C=8587;T=0/C=4400;T=1/C=12987
lod=42:369
-
-
-
het
2
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