or
or
Exact

Results for "Xiong2019"

Variant Events: 51

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
SMARCA2     B0154chr9:
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-Xiong2019 ET
MEF2C     B0806chr5:
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-Xiong2019 ET
SMARCA2     B0153chr9:
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-Xiong2019 ET
SMARCA2     B0339chr9:
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-Xiong2019 ET
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
CDKL5     M0327chrX:
18582616-18582616		CGexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.C119G
c.C119G		p.A40G
p.A40G		19.58-Xiong2019 ET
CDKL5     M0326chrX:
18525274-18525274		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G58C
c.G58C		p.G20R
p.G20R		20.5-Xiong2019 ET
HCFC1     B0087chrX:
153217114-153217114		CTexonicMaternalnonsynonymous SNVNM_005334c.G5305Ap.V1769M18.321.294E-5Xiong2019 ET
CDKL5     M0328chrX:
18582595-18582595		AGsplicingDe novosplicing18.57-Xiong2019 ET
CDKL5     M0323chrX:
18593610-18593610		AAAexonicDe novoframeshift insertionNM_003159
NM_001037343		c.282dupA
c.282dupA		p.K94fs
p.K94fs		--Xiong2019 ET
CDKL5     P0076chrX:
18593490-18593494		AGAAAAexonicDe novoframeshift deletionNM_003159
NM_001037343		c.163_166del
c.163_166del		p.E55fs
p.E55fs		--Xiong2019 ET
CDKL5     M0325chrX:
18598086-18598086		GCexonicDe novononsynonymous SNVNM_003159
NM_001037343		c.G401C
c.G401C		p.R134P
p.R134P		27.3-Xiong2019 ET
CDKL5     M0324chrX:
18622154-18622155		CCCexonicDe novoframeshift deletionNM_003159
NM_001037343		c.1111delC
c.1111delC		p.L371fs
p.L371fs		--Xiong2019 ET
WDFY3     A0245chr4:
85626562-85626562		ATexonicDe novononsynonymous SNVNM_014991c.T8320Ap.W2774R23.3-Xiong2019 ET
SGSH     A0244chr17:
78187614-78187614		CTexonicMaternalnonsynonymous SNVNM_000199c.G734Ap.R245H15.674.0E-4Xiong2019 ET
UBE3A     B0839chr15:
25615824-25615824		GTexonicDe novostopgainNM_130838
NM_130839
NM_000462		c.C1437A
c.C1497A
c.C1506A		p.Y479X
p.Y499X
p.Y502X		42.0-Xiong2019 ET
UBE3A     B0043chr15:
25584333-25584337		TCTTTTexonicDe novoframeshift deletionNM_130838
NM_130839
NM_000462		c.2506_2509del
c.2566_2569del
c.2575_2578del		p.K836fs
p.K856fs
p.K859fs		--Xiong2019 ET
DOLK     A0191chr9:
131709056-131709056		TCexonicBoth parentsnonsynonymous SNVNM_014908c.A527Gp.Y176C19.07-Xiong2019 ET
ASXL3     A0021chr18:
31319264-31319266		ACAAexonicDe novoframeshift deletionNM_030632c.1897_1898delp.Q633fs--Xiong2019 ET
SGSH     A0244chr17:
78187981-78187981		AACAexonicPaternalframeshift insertionNM_000199c.652_653insTGp.L218fs--Xiong2019 ET
OCRL     B0627chrX:
128710340-128710342		TGTTexonicMaternalframeshift deletionNM_000276
NM_001587		c.1927_1928del
c.1927_1928del		p.V643fs
p.V643fs		--Xiong2019 ET
ARHGEF9     B0772chrX:
62898438-62898438		CTexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185		c.G417A
c.G270A
c.G576A		p.W139X
p.W90X
p.W192X		46.0-Xiong2019 ET
CC2D1A     B0016chr19:
14023982-14023982		CTexonicUnknownnonsynonymous SNVNM_017721c.C380Tp.P127L11.38.123E-5Xiong2019 ET
ARHGEF9     B0543chrX:
62917056-62917056		ATexonicMaternalstopgainNM_001173479
NM_001173480
NM_015185		c.T351A
c.T204A
c.T510A		p.Y117X
p.Y68X
p.Y170X		40.0-Xiong2019 ET
SLC6A1     P0095chr3:
11067962-11067962		TGexonicDe novononsynonymous SNVNM_003042c.T995Gp.M332R24.3-Xiong2019 ET
SCN8A     P0273chr12:
52093399-52093399		TCexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.T752C
c.T752C		p.L251P
p.L251P		22.0-Xiong2019 ET
SLC6A8     B0657chrX:
152960032-152960032		CTexonicMaternalstopgainNM_001142805
NM_001142806
NM_005629		c.C1510T
c.C1195T
c.C1540T		p.R504X
p.R399X
p.R514X		33.0-Xiong2019 ET
SLC6A1     M0329chr3:
11064155-11064155		GAsplicingDe novosplicing21.2-Xiong2019 ET
SCN1A     P0378chr2:
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		--Xiong2019 ET
CC2D1A     B0016chr19:
14040908-14040908		GAexonicUnknownnonsynonymous SNVNM_017721c.G2728Ap.E910K24.01.0E-4Xiong2019 ET
SCN2A     P0179chr2:
166237657-166237657		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A4501G
c.A4501G
c.A4501G		p.M1501V
p.M1501V
p.M1501V		21.7-Xiong2019 ET
SCN1A     P0263chr2:
166848637-166848637		GTexonicDe novostopgainNM_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-Xiong2019 ET
USH2A     B0671chr1:
216062375-216062375		GAexonicMaternalnonsynonymous SNVNM_206933c.C7616Tp.P2539L17.599.179E-5Xiong2019 ET
USH2A     B0671chr1:
215953193-215953193		GAexonicMaternalnonsynonymous SNVNM_206933c.C10931Tp.T3644M16.887.419E-5Xiong2019 ET
DYRK1A     B0326chr21:
38868526-38868526		CGexonicUnknownnonsynonymous SNVNM_001396
NM_130436
NM_130438
NM_101395		c.C1205G
c.C1178G
c.C1205G
c.C1205G		p.T402S
p.T393S
p.T402S
p.T402S		9.1827.452E-5Xiong2019 ET
USH2A     B0671chr1:
216348729-216348729		GCexonicPaternalnonsynonymous SNVNM_007123
NM_206933		c.C4492G
c.C4492G		p.P1498A
p.P1498A		21.3-Xiong2019 ET
TSC1     M0320chr9:
135796751-135796765		TTCGAGGGTCCAGTTTexonicMaternalframeshift deletionNM_001162427
NM_000368
NM_001162426		c.569_582del
c.722_735del
c.722_735del		p.E190fs
p.E241fs
p.E241fs		--Xiong2019 ET
SYNGAP1     A0238chr6:
33400564-33400564		CTexonicDe novostopgainNM_006772c.C490Tp.R164X34.0-Xiong2019 ET
TSC2     M0322chr16:
2121535-2121535		CTexonicPaternalnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C1864T
c.C1864T
c.C1864T		p.R622W
p.R622W
p.R622W		28.4-Xiong2019 ET
TSC1     M0321chr9:
135779047-135779047		AACAexonicUnknownframeshift insertionNM_001162427
NM_000368
NM_001162426		c.2045_2046insTG
c.2198_2199insTG
c.2195_2196insTG		p.N682fs
p.N733fs
p.N732fs		--Xiong2019 ET
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
HUWE1     B0644chrX:
53658518-53658518		CAsplicingDe novosplicing18.91-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
ARX     A0016chrX:
25031910-25031910		GTexonicMaternalnonsynonymous SNVNM_139058c.C202Ap.P68T12.32-Xiong2019 ET
FRMPD4     B0435chrX:
12736216-12736216		CGexonicMaternalnonsynonymous SNVNM_014728c.C3271Gp.Q1091E18.943.0E-4Xiong2019 ET
FOXG1     B0692chr14:
29237673-29237673		CAexonicDe novostopgainNM_005249c.C1188Ap.C396X37.0-Xiong2019 ET
CHD8     B0079chr14:
21861922-21861922		TTTexonicMaternalframeshift insertionNM_001170629
NM_020920		c.6032dupA
c.5195dupA		p.E2011fs
p.E1732fs		--Xiong2019 ET
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