fragile X mental retardation 1 [Source:HGNC Symbol;Acc:3775]
HG1459_PATCH
146993666
147032842
1
q27.3
146993666
147032829
FMR1
FMR1-206
HGNC Symbol
HGNC transcript name
13
36.36
protein_coding
protein_coding
ensembl_hava
ensembl
KNOWN
KNOWN
2332
3775
FMR1
0
MSeqDR Master Exome Data Set M1: 331 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
X
146993617
C
A
ENST00000218200
ENSG00000102081
146993469
147032645
ENSP00000218200
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
2
X
146993617
C
A
ENST00000334557
ENSG00000102081
146993469
147032645
ENSP00000355115
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
3
X
146993617
C
A
ENST00000370471
ENSG00000102081
146993469
147032645
ENSP00000359502
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
4
X
146993617
C
A
ENST00000370475
ENSG00000102081
146993469
147032645
ENSP00000359506
FMR1
1
FMR1_HUMAN
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
5
X
146993617
C
A
ENST00000370477
ENSG00000102081
146993469
147032645
ENSP00000359508
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
6
X
146993617
C
A
ENST00000439526
ENSG00000102081
146993469
147032645
ENSP00000395923
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
7
X
146993631
G
C
ENST00000218200
ENSG00000102081
146993469
147032645
ENSP00000218200
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
8
X
146993631
G
C
ENST00000218200
ENSG00000102081
146993469
147032645
ENSP00000218200
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
9
X
146993631
G
C
ENST00000334557
ENSG00000102081
146993469
147032645
ENSP00000355115
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
10
X
146993631
G
C
ENST00000334557
ENSG00000102081
146993469
147032645
ENSP00000355115
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
11
X
146993631
G
C
ENST00000370471
ENSG00000102081
146993469
147032645
ENSP00000359502
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
12
X
146993631
G
C
ENST00000370471
ENSG00000102081
146993469
147032645
ENSP00000359502
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
13
X
146993631
G
C
ENST00000370475
ENSG00000102081
146993469
147032645
ENSP00000359506
FMR1
1
FMR1_HUMAN
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
14
X
146993631
G
C
ENST00000370475
ENSG00000102081
146993469
147032645
ENSP00000359506
FMR1
1
FMR1_HUMAN
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
15
X
146993631
G
C
ENST00000370477
ENSG00000102081
146993469
147032645
ENSP00000359508
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
16
X
146993631
G
C
ENST00000370477
ENSG00000102081
146993469
147032645
ENSP00000359508
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
17
X
146993631
G
C
ENST00000439526
ENSG00000102081
146993469
147032645
ENSP00000395923
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
het
1
18
X
146993631
G
C
ENST00000439526
ENSG00000102081
146993469
147032645
ENSP00000395923
FMR1
1
-
-
-
5'_UTR
NA
-
-
lod=257:562
-
-
-
hom
1
19
X
146993715
G
T
ENST00000218200
ENSG00000102081
146993469
147032645
ENSP00000218200
FMR1
1
-
c.18G>T
p.V6V
syn
rs111485627
0.0115
T=79/G=6026;T=6/G=3525;T=85/G=9551
lod=163:514
-
-
-
hom
9
20
X
146993715
G
T
ENST00000218200
ENSG00000102081
146993469
147032645
ENSP00000218200
FMR1
1
-
c.18G>T
p.V6V
syn
rs111485627
0.0115
T=79/G=6026;T=6/G=3525;T=85/G=9551
lod=163:514
-
-
-
het
20
** 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: