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Results for "Wu2019"

Variant Events: 18

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
SYP     ASD076chrX:
49050795-49050795		GCexonicInheritednonsynonymous SNVNM_003179c.C251Gp.A84G20.81.175E-5Wu2019 E
SCN2A     ASD068chr2:
166152561-166152562		GCGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.229delC
c.229delC
c.229delC		p.P77fs
p.P77fs
p.P77fs		--Wu2019 E
OFD1     ASD083chrX:
13778788-13778788		AGexonicInheritednonsynonymous SNVNM_003611c.A2209Gp.T737A19.474.677E-5Wu2019 E
LAS1L     ASD076chrX:
64737988-64737997		CTCTTCATCACexonicInheritednonframeshift deletionNM_001170650
NM_001170649
NM_031206		c.1620_1628del
c.1746_1754del
c.1797_1805del		p.540_543del
p.582_585del
p.599_602del		-3.0E-4Wu2019 E
DMD     ASD057chrX:
32663092-32663092		GAexonicInheritednonsynonymous SNVNM_000109
NM_004006
NM_004009
NM_004010		c.C1114T
c.C1138T
c.C1126T
c.C769T		p.H372Y
p.H380Y
p.H376Y
p.H257Y		15.78-Wu2019 E
ENPP1     ASD056chr6:
132185700-132185703		TAAATexonicDe novononframeshift deletionNM_006208c.1081_1083delp.361_361del--Wu2019 E
CHD8     ASD063chr14:
21871315-21871315		AGexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.T3575C
c.T2738C		p.I1192T
p.I913T		19.25-Wu2019 E
DMD     ASD059chrX:
32490353-32490353		TGexonicInheritednonsynonymous SNVNM_000109
NM_004006
NM_004009
NM_004010		c.A2853C
c.A2877C
c.A2865C
c.A2508C		p.E951D
p.E959D
p.E955D
p.E836D		16.17-Wu2019 E
SLC16A7     ASD097chr12:
60165042-60165042		CTexonicDe novononsynonymous SNVNM_004731
NM_001270622
NM_001270623		c.C260T
c.C260T
c.C260T		p.P87L
p.P87L
p.P87L		24.72.474E-5Wu2019 E
CHM     ASD086chrX:
85212934-85212934		AGexonicInheritednonsynonymous SNVNM_000390c.T866Cp.M289T17.0-Wu2019 E
PLXNA3     ASD099chrX:
153693430-153693430		CTexonicInheritednonsynonymous SNVNM_017514c.C2113Tp.R705W20.52.865E-5Wu2019 E
DYRK1A     ASD038chr21:
38858853-38858853		CTexonicDe novostopgainNM_001396
NM_130436
NM_130438
NM_101395		c.C601T
c.C574T
c.C601T
c.C601T		p.Q201X
p.Q192X
p.Q201X
p.Q201X		48.0-Wu2019 E
ATRX     ASD035chrX:
76938776-76938776		GAexonicInheritednonsynonymous SNVNM_138270
NM_000489		c.C1858T
c.C1972T		p.R620C
p.R658C		10.7-Wu2019 E
AGTR2     ASD046chrX:
115304290-115304290		CTexonicInheritedstopgainNM_000686c.C757Tp.Q253X29.2-Wu2019 E
GRIN2B     ASD046chr12:
13722914-13722914		TTCexonicDe novoframeshift insertionNM_000834c.2208dupGp.N737fs--Wu2019 E
TBX22     ASD005chrX:
79279657-79279657		GTexonicInheritednonsynonymous SNVNM_001303475
NM_016954
NM_001109878
NM_001109879		c.G92T
c.G452T
c.G452T
c.G92T		p.R31L
p.R151L
p.R151L
p.R31L		18.048.0E-5Wu2019 E
MBD5     ASD032chr2:
149216339-149216342		CAAACAexonicDe novoframeshift deletionNM_018328c.14_15delp.K5fs--Wu2019 E
IGF1     ASD006chr12:
102813438-102813438		CTexonicDe novononsynonymous SNVNM_000618
NM_001111283
NM_001111284		c.G251A
c.G251A
c.G203A		p.R84Q
p.R84Q
p.R68Q		36.0-Wu2019 E
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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