methyl CpG binding protein 2 (Rett syndrome) [Source:HGNC Symbol;Acc:6990]
HG1497_PATCH
153190041
153266223
-1
q28
153190041
153266223
MECP2
MECP2-001
HGNC Symbol
HGNC transcript name
11
46.92
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
4204
6990
MECP2
0
MSeqDR Master Exome Data Set M1: 242 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
153287105
T
-AGAA
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=2087:786
-
-
-
hom
1
2
X
153287314
T
-G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=2087:786
-
-
-
hom
3
3
X
153287314
T
-G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=2087:786
-
-
-
het
15
4
X
153287314
T
+G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=2087:786
-
-
-
het
32
5
X
153287325
T
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=2087:786
-
-
-
het
1
6
X
153287557
G
A
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs191797155
0.006
-
-
-
-
-
het
1
7
X
153287962
T
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027915
0.02055
-
-
-
-
-
het
18
8
X
153287962
T
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027915
0.02055
-
-
-
-
-
hom
12
9
X
153287970
G
A
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027916
0.0767
-
-
-
-
-
het
2
10
X
153287970
G
A
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027916
0.0767
-
-
-
-
-
hom
1
11
X
153287992
A
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
12
X
153287992
A
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
13
X
153288070
G
A
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027917
0.0374
-
-
-
-
-
het
3
14
X
153288070
G
A
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
rs3027917
0.0374
-
-
-
-
-
hom
1
15
X
153288314
C
T
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
X
153288314
C
T
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
1
17
X
153289153
T
C
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
X
153289173
T
C
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
2
19
X
153289173
T
C
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
6
20
X
153289213
C
G
ENST00000303391
ENSG00000169057
153287024
153363212
ENSP00000301948
MECP2
-1
MECP2_HUMAN
-
-
3'_UTR
NA
-
-
lod=14:251
-
-
-
het
1
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