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Results for "Ishay2021"

Variant Events: 36

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
HIVEP2     Ishay2021:13chr6:
143092151-143092151		TCexonicInheritednonsynonymous SNVNM_006734c.A3725Gp.Y1242C13.520.0189Ishay2021 E
HIVEP2     Ishay2021:12chr6:
143092754-143092754		GAexonicInheritednonsynonymous SNVNM_006734c.C3122Tp.A1041V13.470.0204Ishay2021 E
HIVEP2     Ishay2021:15chr6:
143092754-143092754		GAexonicInheritednonsynonymous SNVNM_006734c.C3122Tp.A1041V13.470.0204Ishay2021 E
HIVEP2     Ishay2021:14chr6:
143092151-143092151		TCexonicInheritednonsynonymous SNVNM_006734c.A3725Gp.Y1242C13.520.0189Ishay2021 E
CASZ1     Ishay2021:9chr1:
10714021-10714021		CTexonicInheritednonsynonymous SNVNM_001079843
NM_017766		c.G2093A
c.G2093A		p.R698H
p.R698H		35.03.317E-5Ishay2021 E
ATRX     Ishay2021:8chrX:
76763912-76763912		CTexonicMaternalnonsynonymous SNVNM_138270
NM_000489		c.G7282A
c.G7396A		p.G2428S
p.G2466S		12.36-Ishay2021 E
EHMT1     Ishay2021:11chr9:
140622948-140622948		CTexonicDe novostopgainNM_001145527
NM_024757		c.C790T
c.C790T		p.Q264X
p.Q264X		38.0-Ishay2021 E
CHD8     Ishay2021:10chr14:
21871807-21871807		AATexonicDe novoframeshift insertionNM_001170629
NM_020920		c.3322dupA
c.2485dupA		p.I1108fs
p.I829fs		--Ishay2021 E
MAP1A     Ishay2021:21chr15:
43820423-43820423		CTexonicInheritednonsynonymous SNVNM_002373c.C6752Tp.A2251V12.50.0173Ishay2021 E
MAP1A     Ishay2021:20chr15:
43819150-43819150		CGexonicInheritednonsynonymous SNVNM_002373c.C5479Gp.P1827A1.0480.0157Ishay2021 E
NLGN3     Ishay2021:23chrX:
70367609-70367609		CTexonicMaternalnonsynonymous SNVNM_001166660
NM_018977
NM_181303		c.C10T
c.C10T
c.C10T		p.R4W
p.R4W
p.R4W		8.7760.001Ishay2021 E
NAA15     Ishay2021:22chr4:
140262101-140262101		ATexonicDe novostopgainNM_057175c.A280Tp.K94X38.0-Ishay2021 E
KMT2C     Ishay2021:17chr7:
151873293-151873293		GAexonicInheritednonsynonymous SNVNM_170606c.C9245Tp.P3082L17.180.0045Ishay2021 E
IQSEC2     Ishay2021:16chrX:
53264327-53264327		GAexonicMaternalnonsynonymous SNVNM_001111125c.C3541Tp.P1181S3.2856.0E-4Ishay2021 E
MAP1A     Ishay2021:19chr15:
43820423-43820423		CTexonicInheritednonsynonymous SNVNM_002373c.C6752Tp.A2251V12.50.0173Ishay2021 E
LRRC4C     Ishay2021:18chr11:
40137835-40137835		TGexonicInheritednonsynonymous SNVNM_020929
NM_001258419		c.A8C
c.A8C		p.N3T
p.N3T		24.50.0026Ishay2021 E
SCN2A     Ishay2021:29chr2:
166170518-166170518		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A1283G
c.A1283G
c.A1283G		p.Y428C
p.Y428C
p.Y428C		24.0-Ishay2021 E
SCN2A     Ishay2021:28chr2:
166187925-166187925		GAexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.G2235A
c.G2235A
c.G2235A		p.W745X
p.W745X
p.W745X		41.0-Ishay2021 E
SMARCA2     Ishay2021:31chr9:
2039778-2039780		AGCAexonicInheritedframeshift deletionNM_001289396
NM_001289397
NM_003070
NM_139045		c.669_670del
c.669_670del
c.669_670del
c.669_670del		p.Q223fs
p.Q223fs
p.Q223fs
p.Q223fs		--Ishay2021 E
SHANK2     Ishay2021:30chr11:
70653185-70653186		TCTexonicDe novounknown--Ishay2021 E
PHF2     Ishay2021:25chr9:
96439216-96439216		CTexonicInheritednonsynonymous SNVNM_005392c.C3173Tp.S1058L12.290.0015Ishay2021 E
PHF2     Ishay2021:24chr9:
96422528-96422528		GAexonicInheritednonsynonymous SNVNM_005392c.G1384Ap.V462M7.2360.0011Ishay2021 E
PTPN11     Ishay2021:27chr12:
112926888-112926888		GAexonicDe novononsynonymous SNVNM_002834c.G1508Ap.G503E34.0-Ishay2021 E
PTCHD1     Ishay2021:26chrX:
23412266-23412266		TGexonicMaternalnonsynonymous SNVNM_173495c.T2631Gp.D877E10.32-Ishay2021 E
TSHZ3     Ishay2021:36chr19:
31769293-31769293		TCexonicInheritednonsynonymous SNVNM_020856c.A1406Gp.E469G18.150.0081Ishay2021 E
SYNGAP1     Ishay2021:33chr6:
33408600-33408600		GAexonicInheritednonsynonymous SNVNM_006772c.G1771Ap.A591T22.6-Ishay2021 E
STXBP1     Ishay2021:32chr9:
130422330-130422330		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G268A
c.G268A		p.D90N
p.D90N		36.0-Ishay2021 E
SYNGAP1     Ishay2021:35chr6:
33408600-33408600		GAexonicInheritednonsynonymous SNVNM_006772c.G1771Ap.A591T22.6-Ishay2021 E
SYNGAP1     Ishay2021:34chr6:
33408600-33408600		GAexonicInheritednonsynonymous SNVNM_006772c.G1771Ap.A591T22.6-Ishay2021 E
ARID1B     Ishay2021:5chr6:
157405978-157405980		TGGTexonicDe novoframeshift deletionNM_017519
NM_020732		c.2182_2183del
c.2221_2222del		p.G728fs
p.G741fs		--Ishay2021 E
ANKRD11     Ishay2021:4chr16:
89350537-89350542		CTTTTTCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.2408_2412del
c.2408_2412del
c.2408_2412del		p.K803fs
p.K803fs
p.K803fs		--Ishay2021 E
ARX     Ishay2021:7chrX:
25025490-25025490		GCexonicMaternalnonsynonymous SNVNM_139058c.C1186Gp.P396A12.261.0E-4Ishay2021 E
ARX     Ishay2021:6chrX:
25031502-25031502		GTexonicMaternalnonsynonymous SNVNM_139058c.C610Ap.R204S8.719-Ishay2021 E
AFF2     Ishay2021:1chrX:
147744029-147744029		CTexonicMaternalnonsynonymous SNVNM_001169122
NM_001169123
NM_001169124
NM_001169125
NM_002025		c.C769T
c.C769T
c.C781T
c.C769T
c.C781T		p.P257S
p.P257S
p.P261S
p.P257S
p.P261S		8.491-Ishay2021 E
ANK3     Ishay2021:3chr10:
61834098-61834098		CAexonicInheritednonsynonymous SNVNM_020987c.G6541Tp.G2181W17.766.0E-4Ishay2021 E
ANK3     Ishay2021:2chr10:
61833414-61833414		AGexonicInheritednonsynonymous SNVNM_020987c.T7225Cp.S2409P18.60.0047Ishay2021 E
Source Variant Information

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Source:

Paper alias:

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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
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