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Results for "An2014"

Variant Events: 44

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
SRSF7     31.s1chr2:
38975221-38975221		CCCexonicDe novoframeshift insertionNM_001031684
NM_001195446		c.539dupG
c.539dupG		p.R180fs
p.R180fs		--An2014 E
SCYL3     04.s1chr1:
169824927-169824927		AGintronicDe novo-1.803E-5An2014 E
CDKL3     05.s1chr5:
133635407-133635407		TCexonicDe novononsynonymous SNVNM_001300853c.A1187Gp.N396S6.631-An2014 E
PCDH15     10.s1chr10:
55583161-55583161		TGintronicDe novo--An2014 E
GOLGA8M     14.s1chr15:
28953439-28953439		GAintronicDe novo-1.771E-5An2014 E
GAP43     15.s1chr3:
115350078-115350078		TTTGTTTintronicDe novo--An2014 E
CCDC85A     18.s1chr2:
56420613-56420613		GAintronicDe novo--An2014 E
NHLH2     20.s1chr1:
116386046-116386047		CACintergenicDe novo--An2014 E
XRCC5     21.s1chr2:
217024745-217024745		GAintronicDe novo--An2014 E
SETD7     27.s1chr4:
140428120-140428120		GAUTR3De novo--An2014 E
ABI3BP     29.s1chr3:
100555977-100555977		TCintronicDe novo8.64-An2014 E
TRIM53AP     31.s1chr11:
89755905-89755905		CTintergenicDe novo--An2014 E
DENND1A     31.s1chr9:
126164194-126164194		GAintronicDe novo--An2014 E
ANAPC1P1     33.s1chr2:
87127964-87127964		CTintergenicDe novo--An2014 E
UBR4     36.s1chr1:
19480238-19480238		TAintronicDe novo--An2014 E
SNAPC5     38.s1chr15:
66782828-66782828		CTUTR3De novo--An2014 E
GTF3C2     02.s1chr2:
27550112-27550112		GAexonicDe novononsynonymous SNVNM_001035521
NM_001521		c.C2449T
c.C2449T		p.R817C
p.R817C		16.7-An2014 E
C19orf18     04.s1chr19:
58470038-58470038		CTexonicDe novononsynonymous SNVNM_152474c.G580Ap.E194K12.18-An2014 E
RUBCN     06.s1chr3:
197421312-197421312		GAexonicDe novononsynonymous SNVNM_014687
NM_001145642		c.C1618T
c.C1483T		p.R540C
p.R495C		32.0-An2014 E
SMYD3     08.s1chr1:
246021874-246021874		CTexonicDe novononsynonymous SNVNM_001167740
NM_022743		c.G1000A
c.G823A		p.A334T
p.A275T		26.13.296E-5An2014 E
NPC1     11.s1chr18:
21119400-21119400		CTexonicDe novononsynonymous SNVNM_000271c.G2830Ap.D944N33.01.762E-5An2014 E
MLLT10     15.s1chr10:
21962536-21962536		CGexonicDe novononsynonymous SNVNM_001195626
NM_004641		c.C1309G
c.C1309G		p.P437A
p.P437A		14.59-An2014 E
KSR2     16.s1chr12:
117922337-117922337		GTexonicDe novononsynonymous SNVNM_173598c.C2247Ap.H749Q17.65-An2014 E
MYEF2     17.s1chr15:
48446057-48446057		GAexonicDe novononsynonymous SNVNM_001301210
NM_016132		c.C1019T
c.C1019T		p.P340L
p.P340L		23.95.844E-5An2014 E
LYST     17.s1chr1:
235896968-235896968		TAexonicDe novononsynonymous SNVNM_000081
NM_001301365		c.A8636T
c.A8636T		p.K2879I
p.K2879I		22.2-An2014 E
SCN2A     18.s1chr2:
166231244-166231244		TGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4022G
c.T4022G
c.T4022G		p.L1341R
p.L1341R
p.L1341R		21.8-An2014 E
PHF20     20.s1chr20:
34451133-34451133		AGexonicDe novononsynonymous SNVNM_016436c.A619Gp.K207E23.4-An2014 E
EIF3G     21.s1chr19:
10229376-10229376		GAexonicDe novononsynonymous SNVNM_003755c.C268Tp.R90W23.91.65E-5An2014 E
BMP2K     21.s1chr4:
79832450-79832450		CTexonicDe novononsynonymous SNVNM_198892c.C2749Tp.P917S0.227-An2014 E
FAM86B2     27.s1chr8:
12287885-12287885		TGexonicDe novononsynonymous SNVNM_001137610c.A316Cp.T106P3.2390.0021An2014 E
METTL2B     31.s1chr7:
128120734-128120734		AGexonicDe novononsynonymous SNVNM_018396c.A592Gp.I198V10.799.061E-6An2014 E
EPAS1     35.s1chr2:
46597010-46597010		GAexonicDe novononsynonymous SNVNM_001430c.G824Ap.R275H28.79.263E-6An2014 E
MINDY4     38.s2chr7:
30898928-30898928		GCexonicDe novononsynonymous SNVNM_032222c.G1733Cp.R578T17.118.284E-5An2014 E
XRN2     39.s2chr20:
21327102-21327102		GAexonicDe novononsynonymous SNVNM_012255c.G1579Ap.V527M32.0-An2014 E
UNC79     25.s1chr14:
94008885-94008885		GAexonicDe novostopgainNM_020818c.G1067Ap.W356X39.0-An2014 E
CENPBD1     37.s1chr16:
90037892-90037892		CAexonicDe novostopgainNM_145039c.G439Tp.E147X38.0-An2014 E
JAK2     02.s1chr9:
5123091-5123091		AGexonicDe novosynonymous SNVNM_004972c.A3147Gp.T1049T--An2014 E
PRPF19     02.s1chr11:
60671209-60671209		GAexonicDe novosynonymous SNVNM_014502c.C144Tp.S48S-5.795E-5An2014 E
ZNF699     13.s1chr19:
9413073-9413073		GAexonicDe novosynonymous SNVNM_198535c.C156Tp.F52F--An2014 E
CLYBL     23.s1chr13:
100425084-100425084		GAexonicDe novosynonymous SNVNM_206808c.G69Ap.A23A-1.654E-5An2014 E
NOL9     24.s1chr1:
6589211-6589211		TCexonicDe novosynonymous SNVNM_024654c.A1668Gp.A556A--An2014 E
RPL4     24.s1chr15:
66792636-66792636		TCexonicDe novosynonymous SNVNM_000968c.A912Gp.A304A--An2014 E
FCER2     35.s1chr19:
7755047-7755047		GAexonicDe novosynonymous SNVNM_001207019
NM_001220500
NM_002002		c.C723T
c.C726T
c.C726T		p.Y241Y
p.Y242Y
p.Y242Y		--An2014 E
WIPI1     39.s3chr17:
66449109-66449109		GAexonicDe novosynonymous SNVNM_017983c.C105Tp.A35A-2.472E-5An2014 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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