or
or
Exact

Results for "MECP2"

Variant Events: 97

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     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     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     HN0142.p1chrX:
153296584-153296584		CC/GexonicMaternal--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     Wang2023:244chrX:
153296605-153296605		GCexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C710G
c.C674G
c.C395G		p.P237R
p.P225R
p.P132R		18.26-Wang2023 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
Zhou2022 GE
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     Wang2023:250chrX:
153296363-153296363		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Wang2023 E
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     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     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     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     Wang2023:287chrX:
153296471-153296471		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C844T
c.C808T
c.C529T		p.R282X
p.R270X
p.R177X		29.5-Wang2023 E
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     Wang2023:320chrX:
153296363-153296363		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Wang2023 E
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
Zhou2022 GE
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     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     Hu2022:8chrX:
153296399-153296399		GAexonicUnknownstopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Hu2022 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     Miyake2023:16783chrX:
153296374-153296374		GCexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C941G
c.C905G
c.C626G		p.P314R
p.P302R
p.P209R		18.97-Miyake2023 E
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     Hu2022:24chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Hu2022 T
MECP2     Miyake2023:21488chrX:
153296363-153296363		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Miyake2023 E
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     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     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     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     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     GX0477.p1chrX:
153296207-153296207		CC/TexonicDe novo--Guo2018 T
MECP2     SP0121512chrX:
153296127-153296144		TGGGAGCAGTGGCACGGGTexonicframeshift deletionNM_001110792
NM_004992
NM_001316337		c.1171_1187del
c.1135_1151del
c.856_872del		p.P391fs
p.P379fs
p.P286fs		--Zhou2022 GE
MECP2     SP0024630chrX:
153296071-153296115		GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGexonicframeshift deletionNM_001110792
NM_004992
NM_001316337		c.1200_1243del
c.1164_1207del
c.885_928del		p.P400fs
p.P388fs
p.P295fs		--Zhou2022 GE
MECP2     MSSNG00370-003chrX:
153296363-153296363		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Zhou2022 GE
MECP2     SP0043455chrX:
153296354-153296354		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C961T
c.C925T
c.C646T		p.R321W
p.R309W
p.R216W		15.93-Zhou2022 GE
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     SMHC01316d000chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Yuan2023 E
MECP2     1-0207-005chrX:
153296605-153296605		GCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C710G
c.C674G
c.C395G		p.P237R
p.P225R
p.P132R		18.26-Zhou2022 GE
MECP2     2-1287-003chrX:
153296516-153296516		GAexonicstopgainNM_001110792
NM_004992
NM_001316337		c.C799T
c.C763T
c.C484T		p.R267X
p.R255X
p.R162X		33.0-Zhou2022 GE
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     SP0082092chrX:
153296807-153296807		TCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.A508G
c.A472G
c.A193G		p.T170A
p.T158A
p.T65A		19.14-Zhou2022 GE
MECP2     mAGRE1362chrX:
153296192-153296193		TGTexonicUnknownframeshift deletionNM_001110792
NM_004992
NM_001316337		c.1122delC
c.1086delC
c.807delC		p.P374fs
p.P362fs
p.P269fs		--Cirnigliaro2023 G
MECP2     AU2466301chrX:
153296605-153296605		GCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C710G
c.C674G
c.C395G		p.P237R
p.P225R
p.P132R		18.26-Zhou2022 GE
MECP2     mAGRE1361chrX:
153296192-153296193		TGTexonicUnknownframeshift deletionNM_001110792
NM_004992
NM_001316337		c.1122delC
c.1086delC
c.807delC		p.P374fs
p.P362fs
p.P269fs		--Cirnigliaro2023 G
MECP2     SP0120175chrX:
153296363-153296363		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Zhou2022 GE
MECP2     MT_75.3chrX:
153296363-153296363		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Zhou2022 GE
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     SP0065249chrX:
153296464-153296464		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C851T
c.C815T
c.C536T		p.P284L
p.P272L
p.P179L		25.76.979E-5Zhou2022 GE
MECP2     AM04ZF-03chrX:
153296399-153296399		GAexonicstopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Zhou2022 GE
MECP2     6-0476-003chrX:
153296882-153296882		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C433T
c.C397T
c.C118T		p.R145C
p.R133C
p.R40C		18.34-Zhou2022 GE
MECP2     SP0080256chrX:
153296878-153296878		GCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C437G
c.C401G
c.C122G		p.S146C
p.S134C
p.S41C		17.95-Zhou2022 GE
MECP2     SP0125430chrX:
153297856-153297856		CTexonicnonsynonymous SNVNM_001110792
NM_004992		c.G215A
c.G179A		p.G72D
p.G60D		19.69-Zhou2022 GE
MECP2     SP0074795chrX:
153297719-153297719		GAexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C352T
c.C316T
c.C37T		p.R118W
p.R106W
p.R13W		19.94-Zhou2022 GE
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     SP0350397chrX:
153296605-153296605		GCexonicnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C710G
c.C674G
c.C395G		p.P237R
p.P225R
p.P132R		18.26-Zhou2022 GE
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     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
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
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     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     Krgovic2022:033763chrX:
153296354-153296354		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C961T
c.C925T
c.C646T		p.R321W
p.R309W
p.R216W		15.93-Krgovic2022 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     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     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
Trost2022 G
Zhou2022 GE
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
More

VariCarta Copyright © 2016-2023 Contact Us