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Results for "Chen2021"

Variant Events: 77

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
AFF2     Chen2021:2chrX:
147919244-147919244		CAexonicUnknownnonsynonymous SNVNM_001169123
NM_002025		c.C1148A
c.C1160A		p.S383Y
p.S387Y		16.321.15E-5Chen2021 GET
ADSL     Chen2021:1chr22:
40760331-40760331		ATexonicBoth parentsnonsynonymous SNVNM_000026
NM_001123378		c.A1153T
c.A1153T		p.I385F
p.I385F		29.2-Chen2021 GET
DEAF1     Chen2021:4chr11:
686992-686992		GAexonicDe novononsynonymous SNVNM_021008c.C670Tp.R224W16.45-Chen2021 GET
ASXL3     Chen2021:3chr18:
31319264-31319266		ACAAexonicDe novoframeshift deletionNM_030632c.1897_1898delp.Q633fs--Chen2021 GET
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
IDS     Chen2021:9chrX:
148585008-148585008		GCexonicMaternalnonsynonymous SNVNM_000202
NM_006123		c.C252G
c.C252G		p.C84W
p.C84W		15.34-Chen2021 GET
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     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
EHMT1     Chen2021:6chr9:
140711901-140711901		CTexonicDe novostopgainNM_024757c.C3385Tp.Q1129X41.0-Chen2021 GET
DEAF1     Chen2021:5chr11:
686992-686992		GAexonicDe novononsynonymous SNVNM_021008c.C670Tp.R224W16.45-Chen2021 GET
HUWE1     Chen2021:8chrX:
53658518-53658518		CAsplicingDe novosplicing18.91-Chen2021 GET
GABBR2     Chen2021:7chr9:
101133817-101133817		CTexonicDe novononsynonymous SNVNM_005458c.G1699Ap.A567T25.4-Chen2021 GET
PRTG     Chen2021:18chr15:
55974592-55974592		TAexonicDe novononsynonymous SNVNM_173814c.A646Tp.S216C17.75-Chen2021 GET
POLR2A     Chen2021:17chr17:
7414872-7414872		CTexonicDe novononsynonymous SNVNM_000937c.C4066Tp.R1356C19.88-Chen2021 GET
SGSH     Chen2021:19chr17:
78187614-78187614		CTexonicMaternalnonsynonymous SNVNM_000199c.G734Ap.R245H15.674.0E-4Chen2021 GET
SGSH     Chen2021:19chr17:
78187981-78187981		AACAexonicPaternalframeshift insertionNM_000199c.652_653insTGp.L218fs--Chen2021 GET
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     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
NEXMIF     Chen2021:16chrX:
73960230-73960230		CTexonicMaternalnonsynonymous SNVNM_001008537c.G4162Ap.A1388T9.3151.14E-5Chen2021 GET
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
ARX     Chen2021:23chrX:
25031807-25031807		GGGCCGCCexonicUnknownnonframeshift insertionNM_139058c.304_305insGGCGGCp.A102delinsGRP--Chen2021 GET
USH2A     Chen2021:22chr1:
216348729-216348729		GCexonicPaternalnonsynonymous SNVNM_007123
NM_206933		c.C4492G
c.C4492G		p.P1498A
p.P1498A		21.3-Chen2021 GET
SLC25A13     Chen2021:31chr7:
95951267-95951267		AGexonicBoth parentsnonsynonymous SNVNM_001160210
NM_014251		c.T2C
c.T2C		p.M1T
p.M1T		10.010.0012Chen2021 GET
ARX     Chen2021:24chrX:
25031910-25031910		GTexonicMaternalnonsynonymous SNVNM_139058c.C202Ap.P68T12.32-Chen2021 GET
UBE3A     Chen2021:21chr15:
25615824-25615824		GTexonicDe novostopgainNM_130838
NM_130839
NM_000462		c.C1437A
c.C1497A
c.C1506A		p.Y479X
p.Y499X
p.Y502X		42.0-Chen2021 GET
SLC9A7     Chen2021:20chrX:
46513159-46513159		CGsplicingMaternalsplicing9.892.406E-5Chen2021 GET
USH2A     Chen2021:22chr1:
216062375-216062375		GAexonicPaternalnonsynonymous SNVNM_206933c.C7616Tp.P2539L17.599.179E-5Chen2021 GET
USH2A     Chen2021:22chr1:
215953193-215953193		GAexonicMaternalnonsynonymous SNVNM_206933c.C10931Tp.T3644M16.887.419E-5Chen2021 GET
CDKL5     Chen2021:38chrX:
18593610-18593610		AAAexonicDe novoframeshift insertionNM_003159
NM_001037343		c.282dupA
c.282dupA		p.K94fs
p.K94fs		--Chen2021 GET
CDKL5     Chen2021:37chrX:
18593490-18593494		AGAAAAexonicDe novoframeshift deletionNM_003159
NM_001037343		c.163_166del
c.163_166del		p.E55fs
p.E55fs		--Chen2021 GET
CDKL5     Chen2021:40chrX:
18598086-18598086		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G401C
c.G401C		p.R134P
p.R134P		27.3-Chen2021 GET
CDKL5     Chen2021:39chrX:
18622154-18622155		CCCexonicDe novoframeshift deletionNM_003159
NM_001037343		c.1111delC
c.1111delC		p.L371fs
p.L371fs		--Chen2021 GET
TSC1     Chen2021:33chr9:
135796751-135796765		TTCGAGGGTCCAGTTTexonicMaternalframeshift deletionNM_001162427
NM_000368
NM_001162426		c.569_582del
c.722_735del
c.722_735del		p.E190fs
p.E241fs
p.E241fs		--Chen2021 GET
SLC6A8     Chen2021:32chrX:
152960032-152960032		CTexonicMaternalstopgainNM_001142805
NM_001142806
NM_005629		c.C1510T
c.C1195T
c.C1540T		p.R504X
p.R399X
p.R514X		33.0-Chen2021 GET
ARHGEF9     Chen2021:35chrX:
62917056-62917056		ATexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185		c.T351A
c.T204A
c.T510A		p.Y117X
p.Y68X
p.Y170X		40.0-Chen2021 GET
ARHGEF9     Chen2021:34chrX:
62898438-62898438		CTexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185		c.G417A
c.G270A
c.G576A		p.W139X
p.W90X
p.W192X		46.0-Chen2021 GET
SCN2A     Chen2021:47chr2:
166237657-166237657		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A4501G
c.A4501G
c.A4501G		p.M1501V
p.M1501V
p.M1501V		21.7-Chen2021 GET
SCN1A     Chen2021:46chr2:
166848637-166848637		GTexonicUnknownstopgainNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C5148A
c.C5064A
c.C5115A
c.C5148A		p.C1716X
p.C1688X
p.C1705X
p.C1716X		43.0-Chen2021 GET
SCN8A     Chen2021:49chr12:
52093399-52093399		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T752C
c.T752C		p.L251P
p.L251P		22.0-Chen2021 GET
SCN2A     Chen2021:48chr2:
166245960-166245960		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C5644T
c.C5644T
c.C5644T		p.R1882X
p.R1882X
p.R1882X		43.0-Chen2021 GET
CDKL5     Chen2021:42chrX:
18582616-18582616		CGexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.C119G
c.C119G		p.A40G
p.A40G		19.58-Chen2021 GET
CDKL5     Chen2021:41chrX:
18525274-18525274		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G58C
c.G58C		p.G20R
p.G20R		20.5-Chen2021 GET
SCN1A     Chen2021:45chr2:
166892584-166892586		CACCexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.3401_3402del
c.3317_3318del
c.3368_3369del
c.3401_3402del		p.S1134fs
p.S1106fs
p.S1123fs
p.S1134fs		--Chen2021 GET
CDKL5     Chen2021:43chrX:
18582595-18582595		AGsplicingDe novosplicing18.57-Chen2021 GET
DEAF1     Chen2021:54chr11:
687967-687967		AGexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.T608C
c.T608C		p.L203P
p.L203P		24.3-Chen2021 GET
ABCD1     Chen2021:53chrX:
153006143-153006143		CTexonicMaternalnonsynonymous SNVNM_000033c.C1750Tp.H584Y10.13-Chen2021 GET
FOXG1     Chen2021:56chr14:
29237673-29237673		CAexonicDe novostopgainNM_005249c.C1188Ap.C396X37.0-Chen2021 GET
DEAF1     Chen2021:55chr11:
684943-684943		GCexonicDe novononsynonymous SNVNM_001293634
NM_021008		c.C685G
c.C825G		p.R229G
p.H275Q		16.96-Chen2021 GET
SLC6A1     Chen2021:51chr3:
11064155-11064155		GAsplicingDe novosplicing21.2-Chen2021 GET
SLC6A1     Chen2021:50chr3:
11067962-11067962		TGexonicDe novononsynonymous SNVNM_003042c.T995Gp.M332R24.3-Chen2021 GET
SZT2     Chen2021:52chr1:
43909320-43909321		GTGexonicPaternalframeshift deletionNM_015284c.8508delTp.C2836fs--Chen2021 GET
SZT2     Chen2021:52chr1:
43903556-43903556		AGexonicMaternalnonsynonymous SNVNM_015284c.A6320Gp.H2107R17.688.241E-6Chen2021 GET
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
MLYCD     Chen2021:64chr16:
83940604-83940604		GAexonicMaternalnonsynonymous SNVNM_012213c.G541Ap.V181M12.860.001Chen2021 GET
MEF2C     Chen2021:63chr5:
88100551-88100551		CTexonicDe novononsynonymous SNVNM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347		c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A
c.G122A		p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y
p.C41Y		30.0-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
KDM5C     Chen2021:57chrX:
53246342-53246342		TTTexonicMaternalframeshift insertionNM_001146702
NM_001282622
NM_004187		c.439dupA
c.637dupA
c.640dupA		p.K147fs
p.K213fs
p.K214fs		--Chen2021 GET
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
SMARCA2     Chen2021:69chr9:
2110355-2110355		GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.G3394A
c.G3220A
c.G3394A
c.G3394A		p.G1132S
p.G1074S
p.G1132S
p.G1132S		35.0-Chen2021 GET
SMARCA2     Chen2021:68chr9:
2086866-2086866		GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.G2564A
c.G2564A
c.G2564A
c.G2564A		p.R855Q
p.R855Q
p.R855Q
p.R855Q		34.0-Chen2021 GET
SYNGAP1     Chen2021:71chr6:
33400564-33400564		CTexonicDe novostopgainNM_006772c.C490Tp.R164X34.0-Chen2021 GET
SYNGAP1     Chen2021:70chr6:
33405509-33405510		CCCexonicDe novoframeshift deletionNM_006772c.828delCp.P276fs--Chen2021 GET
NBEA     Chen2021:65chr13:
36225989-36225989		CGexonicDe novononsynonymous SNVNM_001204197
NM_015678		c.C1327G
c.C7948G		p.P443A
p.P2650A		23.0-Chen2021 GET
MLYCD     Chen2021:64chr16:
83941879-83941879		AGexonicPaternalnonsynonymous SNVNM_012213c.A790Gp.N264D18.994.975E-5Chen2021 GET
SMARCA2     Chen2021:67chr9:
2086856-2086856		GAexonicDe novononsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.G2554A
c.G2554A
c.G2554A
c.G2554A		p.E852K
p.E852K
p.E852K
p.E852K		33.0-Chen2021 GET
OCRL     Chen2021:66chrX:
128710340-128710342		TGTTexonicMaternalframeshift deletionNM_000276
NM_001587		c.1927_1928del
c.1927_1928del		p.V643fs
p.V643fs		--Chen2021 GET
UNC80     Chen2021:76chr2:
210856889-210856889		GCsplicingMaternalsplicing20.8-Chen2021 GET
UNC80     Chen2021:76chr2:
210682550-210682550		CTexonicPaternalstopgainNM_032504
NM_182587		c.C1567T
c.C1567T		p.R523X
p.R523X		39.0-Chen2021 GET
PRTG     Chen2021:78chr15:
55912307-55912307		CAexonicMaternalnonsynonymous SNVNM_173814c.G3356Tp.G1119V17.864.0E-4Chen2021 GET
WDFY3     Chen2021:77chr4:
85626562-85626562		ATexonicDe novononsynonymous SNVNM_014991c.T8320Ap.W2774R23.3-Chen2021 GET
TSC1     Chen2021:73chr9:
135779047-135779047		AACAexonicUnknownframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2045_2046insTG
c.2198_2199insTG
c.2195_2196insTG		p.N682fs
p.N733fs
p.N732fs		--Chen2021 GET
TBR1     Chen2021:72chr2:
162280350-162280350		GGG exonicDe novo--Chen2021 GET
UBE3A     Chen2021:75chr15:
25584333-25584337		TCTTTTexonicMaternalframeshift deletionNM_130838
NM_130839
NM_000462		c.2506_2509del
c.2566_2569del
c.2575_2578del		p.K836fs
p.K856fs
p.K859fs		--Chen2021 GET
TSC2     Chen2021:74chr16:
2121535-2121535		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1864T
c.C1864T
c.C1864T		p.R622W
p.R622W
p.R622W		28.4-Chen2021 GET
PRTG     Chen2021:78chr15:
55974597-55974597		CTexonicPaternalnonsynonymous SNVNM_173814c.G641Ap.R214H13.05-Chen2021 GET
Source Variant Information

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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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