fragile X mental retardation 1 [Source:HGNC Symbol;Acc:3775]
X
146993469
147032645
1
q27.3
146993481
147031835
FMR1
FMR1-005
HGNC Symbol
HGNC transcript name
13
36.36
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
2332
3775
FMR1
27516
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
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