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Results for "MECP2"

Variant Events: 68

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
MECP2     M03713chrX:
153296806-153296806
GA/GexonicDe novo--Guo2018 T
MECP2     M02493chrX:
153297719-153297719
GA/GexonicDe novo--Guo2018 T
MECP2     M02473chrX:
153296806-153296806
GA/GexonicDe novo--Guo2018 T
MECP2     M03323chrX:
153296516-153296516
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C799T
c.C763T
c.C484T
p.R267X
p.R255X
p.R162X
33.0-Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
MECP2     A0114chrX:
153296099-153296099
CTexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G1216A
c.G1180A
c.G901A
p.E406K
p.E394K
p.E301K
9.3483.627E-5Xiong2019 ET
MECP2     B0235chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Xiong2019 ET
MECP2     B0294chrX:
153295866-153295868
TCTTexonicDe novoframeshift deletionNM_001110792
NM_004992
NM_001316337
c.1447_1448del
c.1411_1412del
c.1132_1133del
p.R483fs
p.R471fs
p.R378fs
--Xiong2019 ET
MECP2     M04493chrX:
153296399-153296399
GAexonicUnknown, De novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
MECP2     1-0497-003chrX:
153387730-153387738
TGGGGGGGGTGGGGGGGGGintergenicDe novo--Yuen2017 G
MECP2     B0333chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Xiong2019 ET
MECP2     HN0142.p1chrX:
153296584-153296584
CC/GexonicMaternal--Guo2018 T
MECP2     GX0477.p1chrX:
153296207-153296207
CC/TexonicDe novo--Guo2018 T
MECP2     Chen2021:10chrX:
153296605-153296605
GCexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C710G
c.C674G
c.C395G
p.P237R
p.P225R
p.P132R
18.26-Chen2021 GET
MECP2     P017chrX:
153363074-153363085
CGCCTCCTCCTCCexonicUnknownframeshift deletionNM_001110792c.38_48delp.G13fs--Long2019 ET
MECP2     Chen2021:12chrX:
153296777-153296777
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C538T
c.C502T
c.C223T
p.R180X
p.R168X
p.R75X
32.0-Chen2021 GET
MECP2     HEN0338.p1chrX:
153296689-153296689
GA/GexonicMaternal--Guo2018 T
MECP2     Chen2021:11chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Chen2021 GET
MECP2     P027chrX:
153296363-153296363
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C952T
c.C916T
c.C637T
p.R318C
p.R306C
p.R213C
21.0-Long2019 ET
MECP2     Chen2021:14chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Chen2021 GET
MECP2     M31872chrX:
153296516-153296516
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C799T
c.C763T
c.C484T
p.R267X
p.R255X
p.R162X
33.0-Guo2018 T
MECP2     P023chrX:
153296882-153296882
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C433T
c.C397T
c.C118T
p.R145C
p.R133C
p.R40C
18.34-Long2019 ET
MECP2     Chen2021:13chrX:
153296399-153296399
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Chen2021 GET
MECP2     P050chrX:
153296516-153296516
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C799T
c.C763T
c.C484T
p.R267X
p.R255X
p.R162X
33.0-Long2019 ET
MECP2     Chen2021:15chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Chen2021 GET
MECP2     Codina-Sola2015:ASD_36chrX:
153296249-153296249
GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1066T
c.C1030T
c.C751T
p.R356W
p.R344W
p.R251W
14.223.446E-5Codina-Sola2015 E
MECP2     1-0354-003chrX:
153296592-153296592
CCGexonicDe novoframeshift insertionNM_001110792
NM_004992
NM_001316337
c.722dupC
c.686dupC
c.407dupC
p.S241fs
p.S229fs
p.S136fs
--Yuen2017 G
MECP2     M02413chrX:
153296777-153296777
GAexonicUnknownstopgainNM_001110792
NM_004992
NM_001316337
c.C538T
c.C502T
c.C223T
p.R180X
p.R168X
p.R75X
32.0-Guo2018 T
Wang2016 T
MECP2     M26830chrX:
153296046-153296046
GCexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1269G
c.C1233G
c.C954G
p.S423R
p.S411R
p.S318R
10.75-Wang2016 T
MECP2     Husson2020:157chrX:
153296434-153296434
TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.A881G
c.A845G
c.A566G
p.E294G
p.E282G
p.E189G
13.67-Husson2020 E
MECP2     Schaaf2011:36chrX:
153296674-153296674
GCexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C641G
c.C605G
c.C326G
p.A214G
p.A202G
p.A109G
10.08-Schaaf2011 T
MECP2     AU3900301chrX:
153302634-153302639
TATACATAintronicDe novo--Yuen2017 G
MECP2     AU034904chrX:
153295832-153295832
CAexonicInheritedstopgainNM_001110792
NM_004992
NM_001316337
c.G1483T
c.G1447T
c.G1168T
p.E495X
p.E483X
p.E390X
37.0-Stessman2017 T
MECP2     PN400532chrX:
153297764-153297764
GAexonicUnknown, De novononsynonymous SNVNM_001110792
NM_004992
c.C307T
c.C271T
p.R103W
p.R91W
23.21.143E-5Leblond2019 E
Leblond2019 E
MECP2     Chen2021:62chrX:
153295866-153295868
TCTTexonicDe novoframeshift deletionNM_001110792
NM_004992
NM_001316337
c.1447_1448del
c.1411_1412del
c.1132_1133del
p.R483fs
p.R471fs
p.R378fs
--Chen2021 GET
MECP2     Chen2021:61chrX:
153296107-153296107
GCexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1208G
c.C1172G
c.C893G
p.P403R
p.P391R
p.P298R
0.057-Chen2021 GET
MECP2     Li2017:19717chrX:
153296471-153296471
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C844T
c.C808T
c.C529T
p.R282X
p.R270X
p.R177X
29.5-Li2017 T
MECP2     Chen2021:58chrX:
153296806-153296806
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C509T
c.C473T
c.C194T
p.T170M
p.T158M
p.T65M
19.61-Chen2021 GET
MECP2     Yin2020:073chrX:
153296876-153296876
TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.A439G
c.A403G
c.A124G
p.K147E
p.K135E
p.K42E
16.75-Yin2020 T
MECP2     Chen2021:60chrX:
153296471-153296471
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C844T
c.C808T
c.C529T
p.R282X
p.R270X
p.R177X
29.5-Chen2021 GET
MECP2     Chen2021:59chrX:
153363066-153363068
CTCCexonicDe novoframeshift deletionNM_001110792c.55_56delp.E19fs--Chen2021 GET
MECP2     08C79047chrX:
153296629-153296629
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C686T
c.C650T
c.C371T
p.P229L
p.P217L
p.P124L
21.7-Kosmicki2017 E
MECP2     JS0024.p1chrX:
153296777-153296777
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C538T
c.C502T
c.C223T
p.R180X
p.R168X
p.R75X
32.0-Guo2018 T
MECP2     AU033AchrX:
153296852-153296852
CAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.G463T
c.G427T
c.G148T
p.E155X
p.E143X
p.E50X
19.27-Kosmicki2017 E
Satterstrom2020 E
MECP2     M30377chrX:
153296213-153296213
TCexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.A1102G
c.A1066G
c.A787G
p.S368G
p.S356G
p.S263G
7.079-Guo2018 T
MECP2     Alvarez-Mora2016:ASD-7chrX:
153295949-153295949
CTexonicUnknownnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G1366A
c.G1330A
c.G1051A
p.A456T
p.A444T
p.A351T
5.2070.001Alvarez-Mora2016 T
MECP2     Codina-Sola2015:ASD_14chrX:
153296117-153296117
GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1198T
c.C1162T
c.C883T
p.P400S
p.P388S
p.P295S
7.7856.143E-5Codina-Sola2015 E
MECP2     M8811chrX:
153296696-153296696
CTexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G619A
c.G583A
c.G304A
p.G207S
p.G195S
p.G102S
16.674.563E-5Wang2016 T
MECP2     HEN0356.p1chrX:
153296777-153296777
GAexonicUnknownstopgainNM_001110792
NM_004992
NM_001316337
c.C538T
c.C502T
c.C223T
p.R180X
p.R168X
p.R75X
32.0-Guo2018 T
MECP2     JS0008.p1chrX:
153296568-153296569
ACAexonicMaternalframeshift deletionNM_001110792
NM_004992
NM_001316337
c.746delG
c.710delG
c.431delG
p.G249fs
p.G237fs
p.G144fs
--Guo2018 T
MECP2     Lee2020:24chrX:
153296677-153296677
GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C638T
c.C602T
c.C323T
p.A213V
p.A201V
p.A108V
11.490.0015Lee2020 T
MECP2     13518.p1chrX:
153296399-153296399
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Wilfert2021 G
MECP2     M08811chrX:
153296696-153296696
CTexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G619A
c.G583A
c.G304A
p.G207S
p.G195S
p.G102S
16.674.563E-5Guo2018 T
MECP2     SP0016232chrX:
153296115-153296122
TGGGGGCATexonicInheritedframeshift deletionNM_001110792
NM_004992
NM_001316337
c.1193_1199del
c.1157_1163del
c.878_884del
p.L398fs
p.L386fs
p.L293fs
--Feliciano2019 E
MECP2     M08101chrX:
153295997-153295997
CTexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G1318A
c.G1282A
c.G1003A
p.G440S
p.G428S
p.G335S
12.941.0E-4Guo2018 T
MECP2     Lee2020:57chrX:
153296876-153296876
TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.A439G
c.A403G
c.A124G
p.K147E
p.K135E
p.K42E
16.75-Lee2020 T
MECP2     AU-5400chrX:
153295832-153295832
CAexonicInheritedstopgainNM_001110792
NM_004992
NM_001316337
c.G1483T
c.G1447T
c.G1168T
p.E495X
p.E483X
p.E390X
37.0-Yu2013 E
MECP2     Lee2020:121chrX:
153296824-153296824
GCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C491G
c.C455G
c.C176G
p.P164R
p.P152R
p.P59R
19.01-Lee2020 T
MECP2     AU-12100chrX:
153296683-153296683
GCexonicInheritednonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C632G
c.C596G
c.C317G
p.P211R
p.P199R
p.P106R
11.641.14E-5Yu2013 E
MECP2     M8470chrX:
153296153-153296153
GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1162T
c.C1126T
c.C847T
p.P388S
p.P376S
p.P283S
5.8119.0E-4Wang2016 T
MECP2     138chrX:
153296824-153296824
GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C491T
c.C455T
c.C176T
p.P164L
p.P152L
p.P59L
18.47-Wen2017 E
MECP2     548chrX:
153296153-153296153
GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1162T
c.C1126T
c.C847T
p.P388S
p.P376S
p.P283S
5.8119.0E-4Wen2017 E
MECP2     M11435chrX:
153296671-153296671
GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C644T
c.C608T
c.C329T
p.T215M
p.T203M
p.T110M
6.5576.0E-4Guo2018 T
Wang2016 T
MECP2     A0239chrX:
153296399-153296399
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Xiong2019 ET
MECP2     A0241chrX:
153296107-153296107
GCexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C1208G
c.C1172G
c.C893G
p.P403R
p.P391R
p.P298R
0.057-Xiong2019 ET
MECP2     A0240chrX:
153296471-153296471
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C844T
c.C808T
c.C529T
p.R282X
p.R270X
p.R177X
29.5-Xiong2019 ET
MECP2     660chrX:
153296399-153296399
GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337
c.C916T
c.C880T
c.C601T
p.R306X
p.R294X
p.R201X
32.0-Wen2017 E
MECP2     GX0507.p1chrX:
153295940-153295940
CTexonicPaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.G1375A
c.G1339A
c.G1060A
p.A459T
p.A447T
p.A354T
13.826.839E-5Guo2018 T
MECP2     08C74464chrX:
153296605-153296605
GCexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337
c.C710G
c.C674G
c.C395G
p.P237R
p.P225R
p.P132R
18.26-Satterstrom2020 E
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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