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Results for "Yu2013"

Variant Events: 20

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
AMT     AU-11800chr3:
49456796-49456796		TCexonicInheritednonsynonymous SNVNM_001164710
NM_001164711
NM_000481
NM_001164712		c.A461G
c.A425G
c.A593G
c.A593G		p.D154G
p.D142G
p.D198G
p.D198G		19.64-Yu2013 E
AMT     AU-1700chr3:
49455362-49455362		TAexonicInheritednonsynonymous SNVNM_001164710
NM_001164711
NM_000481
NM_001164712		c.A790T
c.A754T
c.A922T
c.A922T		p.I264F
p.I252F
p.I308F
p.I308F		18.36-Yu2013 E
PAH     AU-4100chr12:
103248917-103248917		GAexonicInheritedstopgainNM_000277c.C703Tp.Q235X38.0-Yu2013 E
CEP152     AU-3200chr15:
49054766-49054766		GAexonicInheritednonsynonymous SNVNM_001194998
NM_014985		c.C2384T
c.C2384T		p.T795I
p.T795I		18.7-Yu2013 E
PEX7     AU-3500chr6:
137147493-137147493		GCexonicInheritednonsynonymous SNVNM_000288c.G225Cp.W75C24.9-Yu2013 E
SYNE1     AU-1600chr6:
152690641-152690641		GTexonicInheritednonsynonymous SNVNM_033071
NM_182961		c.C9637A
c.C9616A		p.L3213M
p.L3206M		16.841.648E-5Yu2013 E
MTRR     AU-20300chr5:
7892937-7892937		AGexonicInheritednonsynonymous SNVNM_002454
NM_024010		c.A1468G
c.A1549G		p.T490A
p.T517A		21.20.0046Yu2013 E
AHI1     AU-22000chr6:
135732649-135732649		TCexonicInheritednonsynonymous SNVNM_001134830
NM_001134832
NM_017651
NM_001134831		c.A2798G
c.A2798G
c.A2798G
c.A2798G		p.Y933C
p.Y933C
p.Y933C
p.Y933C		16.480.004Yu2013 E
AFF2     AU-4400chrX:
148044334-148044334		GAexonicInheritednonsynonymous SNVNM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025		c.G1703A
c.G2681A
c.G2675A
c.G2663A
c.G2750A
c.G2780A		p.R568H
p.R894H
p.R892H
p.R888H
p.R917H
p.R927H		26.90.0015Yu2013 E
ATRX     AU-12500chrX:
76918960-76918960		TCexonicInheritednonsynonymous SNVNM_138270
NM_000489		c.A3917G
c.A4031G		p.K1306R
p.K1344R		14.582.321E-5Yu2013 E
VPS13B     AU-17800chr8:
100205240-100205240		TGexonicInheritednonsynonymous SNVNM_015243
NM_017890
NM_152564		c.T2470G
c.T2470G
c.T2470G		p.S824A
p.S824A
p.S824A		3.7722.0E-4Yu2013 E
VPS13B     AU-21100chr8:
100887727-100887727		GGCexonicInheritedframeshift insertionNM_017890
NM_152564		c.11903dupC
c.11828dupC		p.A3968fs
p.A3943fs		-8.237E-6Yu2013 E
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
NLGN3     AU-17700chrX:
70387029-70387029		TCexonicInheritednonsynonymous SNVNM_001166660
NM_018977
NM_181303		c.T962C
c.T1022C
c.T1082C		p.V321A
p.V341A
p.V361A		15.544.567E-5Yu2013 E
FMR1     AU-18000chrX:
147030242-147030242		AGexonicInheritednonsynonymous SNVNM_001185076
NM_001185082
NM_002024		c.A1714G
c.A1639G
c.A1777G		p.K572E
p.K547E
p.K593E		16.04-Yu2013 E
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
NLGN4X     AU-5700chrX:
5821734-5821734		GAexonicInheritedstopgainNM_001282146
NM_020742
NM_181332
NM_001282145		c.C985T
c.C985T
c.C985T
c.C985T		p.Q329X
p.Q329X
p.Q329X
p.Q329X		44.0-Yu2013 E
NLGN4X     AU-13400chrX:
5811012-5811012		CTexonicInheritednonsynonymous SNVNM_001282146
NM_020742
NM_181332
NM_001282145		c.G2297A
c.G2297A
c.G2297A
c.G2297A		p.R766Q
p.R766Q
p.R766Q
p.R766Q		18.08-Yu2013 E
POMGNT1     AU-13300chr1:
46658987-46658987		CTexonicInheritednonsynonymous SNVNM_001290129
NM_001290130
NM_001243766
NM_017739		c.G1034A
c.G671A
c.G1100A
c.G1100A		p.R345H
p.R224H
p.R367H
p.R367H		28.88.675E-6Yu2013 E
PAH     AU-13100chr12:
103249007-103249028		CATAGCAAGCATGGGTTTTATACexonicInheritednonframeshift deletionNM_000277c.592_612delp.198_204del--Yu2013 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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