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Results for "Chahrour2012"

Variant Events: 64

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
AFF2     AU1328302chrX:
148039954-148039954		CGexonicUnknownnonsynonymous SNVNM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025		c.C1579G
c.C2557G
c.C2551G
c.C2539G
c.C2626G
c.C2656G		p.P527A
p.P853A
p.P851A
p.P847A
p.P876A
p.P886A		24.70.0012Chahrour2012 E
DCX     AU1261301chrX:
110653469-110653469		TCexonicUnknownnonsynonymous SNVNM_000555
NM_001195553
NM_178151
NM_178152
NM_178153		c.A401G
c.A158G
c.A158G
c.A158G
c.A158G		p.K134R
p.K53R
p.K53R
p.K53R
p.K53R		16.25-Chahrour2012 E
SLC6A14     AU1261301chrX:
115584305-115584305		TCexonicUnknownnonsynonymous SNVNM_007231c.T1283Cp.I428T19.582.0E-4Chahrour2012 E
PHKA2     AU1252302chrX:
18944634-18944634		CTexonicUnknownnonsynonymous SNVNM_000292c.G1396Ap.A466T14.786.0E-4Chahrour2012 E
CTPS2     AU037103chrX:
16717075-16717075		CTexonicUnknownnonsynonymous SNVNM_001144002
NM_019857
NM_175859		c.G308A
c.G308A
c.G308A		p.R103H
p.R103H
p.R103H		11.720.0021Chahrour2012 E
ZNF182     AU037103chrX:
47842356-47842356		GTexonicUnknownnonsynonymous SNVNM_001007088
NM_001178099
NM_006962		c.C225A
c.C282A
c.C282A		p.N75K
p.N94K
p.N94K		0.0160.0069Chahrour2012 E
HEPH     AU037103chrX:
65423236-65423236		GAexonicUnknownnonsynonymous SNVNM_001282141
NM_014799
NM_001130860
NM_138737		c.G1541A
c.G1307A
c.G2117A
c.G2270A		p.S514N
p.S436N
p.S706N
p.S757N		11.197.0E-4Chahrour2012 E
STARD8     AU037103chrX:
67937370-67937370		GAexonicUnknownnonsynonymous SNVNM_001142504
NM_014725
NM_001142503		c.G374A
c.G374A
c.G614A		p.R125H
p.R125H
p.R205H		6.4794.0E-4Chahrour2012 E
OR13H1     AU037103chrX:
130678067-130678067		CAexonicUnknownnonsynonymous SNVNM_001004486c.C20Ap.T7K13.231.0E-4Chahrour2012 E
OCRL     AU1019301chrX:
128709230-128709230		GAintronicUnknown-2.405E-5Chahrour2012 E
ATP6AP1     AU1388301chrX:
153657458-153657458		AGexonicUnknownnonsynonymous SNVNM_001183c.A226Gp.T76A10.350.0162Chahrour2012 E
SHROOM2     AU022203chrX:
9905467-9905467		GAexonicUnknownnonsynonymous SNVNM_001649c.G3881Ap.R1294H6.9361.0E-4Chahrour2012 E
MED14     AU022203chrX:
40523654-40523654		GTexonicUnknownnonsynonymous SNVNM_004229c.C3353Ap.P1118H25.01.0E-4Chahrour2012 E
PNMA3     AU022203chrX:
152226277-152226277		GAexonicUnknownnonsynonymous SNVNM_001282535
NM_013364		c.G865A
c.G865A		p.V289M
p.V289M		10.710.0017Chahrour2012 E
ARSF     AU039903chrX:
3002678-3002678		GTexonicUnknownnonsynonymous SNVNM_001201538
NM_001201539
NM_004042		c.G801T
c.G801T
c.G801T		p.M267I
p.M267I
p.M267I		0.245.0E-4Chahrour2012 E
CFAP47     AU039903chrX:
36007464-36007464		ATexonicUnknownnonsynonymous SNVNM_001304548
NM_152632		c.A2742T
c.A2742T		p.E914D
p.E914D		10.250.0118Chahrour2012 E
SSX7     AU039903chrX:
52679429-52679429		AGexonicUnknownnonsynonymous SNVNM_173358c.T304Cp.C102R1.5450.0223Chahrour2012 E
TAF7L     AU039903chrX:
100547853-100547853		CTexonicUnknownnonsynonymous SNVNM_024885c.G181Ap.E61K1.5810.0095Chahrour2012 E
ZNF280C     AU039903chrX:
129377640-129377640		CAexonicUnknownnonsynonymous SNVNM_017666c.G278Tp.R93L12.861.0E-4Chahrour2012 E
IDH3G     AU039903chrX:
153051341-153051341		CTexonicUnknownnonsynonymous SNVNM_004135c.G1168Ap.A390T12.32.0E-4Chahrour2012 E
ACKR2     AU070811chr3:
42906595-42906595		GAexonicUnknownnonsynonymous SNVNM_001296c.G601Ap.G201R6.7679.071E-5Chahrour2012 E
LDAH     AU070811chr2:
20974689-20974689		CTexonicUnknownnonsynonymous SNVNM_001282719
NM_001282720
NM_001282724
NM_001282723
NM_021925		c.G223A
c.G205A
c.G223A
c.G349A
c.G349A		p.E75K
p.E69K
p.E75K
p.E117K
p.E117K		28.80.0042Chahrour2012 E
TRIP12     AU035204chr2:
230701669-230701669		CTexonicUnknownnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214		c.G130A
c.G1039A
c.G1039A
c.G1165A		p.A44T
p.A347T
p.A347T
p.A389T		15.351.0E-4Chahrour2012 E
LSG1     AU035204chr3:
194365360-194365360		CTexonicUnknownnonsynonymous SNVNM_018385c.G1739Ap.G580D1.8790.0125Chahrour2012 E
SMG6     AU075308chr17:
2202480-2202480		TCexonicUnknownnonsynonymous SNVNM_017575c.A1567Gp.T523A0.0043.0E-4Chahrour2012 E
EP400     AU075308chr12:
132510280-132510280		GAexonicUnknownnonsynonymous SNVNM_015409c.G4945Ap.A1649T12.90.003Chahrour2012 E
CRTAC1     AU075308chr10:
99655659-99655659		CTexonicUnknownnonsynonymous SNVNM_001206528
NM_018058		c.G1300A
c.G1300A		p.V434I
p.V434I		15.842.0E-4Chahrour2012 E
ITIH3     AU1353302chr3:
52834608-52834608		GAexonicUnknownnonsynonymous SNVNM_002217c.G1130Ap.R377Q4.4790.022Chahrour2012 E
ITGA1     AU037103chr5:
52189563-52189563		ACexonicUnknownnonsynonymous SNVNM_181501c.A982Cp.K328Q15.010.0033Chahrour2012 E
B4GALNT3     AU1019301chr12:
662878-662878		GAexonicUnknownnonsynonymous SNVNM_173593c.G1789Ap.A597T7.3956.665E-5Chahrour2012 E
NPBWR2     AU1019301chr20:
62737383-62737383		CTexonicUnknownnonsynonymous SNVNM_005286c.G802Ap.V268M16.722.0E-4Chahrour2012 E
MTTP     AU022203chr4:
100532602-100532602		GAexonicUnknownnonsynonymous SNVNM_001300785
NM_000253		c.G2062A
c.G1981A		p.G688S
p.G661S		7.4320.0245Chahrour2012 E
GLB1L2     AU039903chr11:
134212766-134212766		CAexonicUnknownnonsynonymous SNVNM_138342c.C205Ap.H69N16.19-Chahrour2012 E
STAB2     AU039903chr12:
104046355-104046355		AGexonicUnknownnonsynonymous SNVNM_017564c.A1279Gp.N427D11.740.005Chahrour2012 E
HHATL     AU039903chr3:
42735279-42735279		AGexonicUnknownnonsynonymous SNVNM_020707c.T1078Cp.S360P8.8398.261E-6Chahrour2012 E
ACKR2     AU070811chr3:
42906647-42906647		GCexonicUnknownnonsynonymous SNVNM_001296c.G653Cp.G218A15.20.003Chahrour2012 E
LDAH     AU070811chr2:
20990072-20990072		TCexonicUnknownnonsynonymous SNVNM_001282723
NM_021925		c.A241G
c.A241G		p.S81G
p.S81G		13.460.0011Chahrour2012 E
TRIP12     AU035204chr2:
230725194-230725194		TCexonicUnknownnonsynonymous SNVNM_001284214c.A152Gp.K51R16.643.0E-4Chahrour2012 E
LSG1     AU035204chr3:
194386984-194386987		GTTCGexonicUnknownnonframeshift deletionNM_018385c.379_381delp.127_127del-0.0027Chahrour2012 E
SMG6     AU075308chr17:
2203527-2203527		GTexonicUnknownnonsynonymous SNVNM_017575c.C520Ap.Q174K8.2250.001Chahrour2012 E
EP400     AU075308chr12:
132522531-132522531		CTexonicUnknownnonsynonymous SNVNM_015409c.C6097Tp.P2033S11.740.0011Chahrour2012 E
CRTAC1     AU075308chr10:
99771030-99771030		CTexonicUnknownnonsynonymous SNVNM_001206528
NM_018058		c.G89A
c.G89A		p.R30Q
p.R30Q		19.544.119E-5Chahrour2012 E
ITIH3     AU1353302chr3:
52836693-52836693		AGexonicUnknownnonsynonymous SNVNM_002217c.A1580Gp.D527G16.532.0E-4Chahrour2012 E
ITGA1     AU037103chr5:
52240850-52240850		CAexonicUnknownnonsynonymous SNVNM_181501c.C3363Ap.S1121R12.680.0072Chahrour2012 E
B4GALNT3     AU1019301chr12:
668548-668548		GAexonicUnknownnonsynonymous SNVNM_173593c.G2849Ap.R950Q23.40.0025Chahrour2012 E
NPBWR2     AU1019301chr20:
62737967-62737967		GAexonicUnknownnonsynonymous SNVNM_005286c.C218Tp.A73V16.220.0022Chahrour2012 E
MTTP     AU022203chr4:
100542308-100542308		GCexonicUnknownnonsynonymous SNVNM_001300785
NM_000253		c.G2514C
c.G2433C		p.L838F
p.L811F		14.140.0013Chahrour2012 E
GLB1L2     AU039903chr11:
134226201-134226201		CTexonicUnknownnonsynonymous SNVNM_138342c.C565Tp.R189C17.650.0031Chahrour2012 E
STAB2     AU039903chr12:
104147084-104147084		GAexonicUnknownnonsynonymous SNVNM_017564c.G6667Ap.E2223K17.671.0E-4Chahrour2012 E
HHATL     AU039903chr3:
42739729-42739729		GAexonicUnknownnonsynonymous SNVNM_020707c.C598Tp.R200C23.30.001Chahrour2012 E
CXCR3     AU070811chrX:
70836332-70836332		CAexonicUnknownnonsynonymous SNVNM_001142797
NM_001504		c.G1131T
c.G990T		p.W377C
p.W330C		10.072.0E-4Chahrour2012 E
NOX1     AU070811chrX:
100118562-100118562		GAexonicUnknownnonsynonymous SNVNM_007052
NM_013955		c.C164T
c.C164T		p.A55V
p.A55V		18.219.304E-5Chahrour2012 E
ENOX2     AU070811chrX:
129765508-129765508		CTexonicUnknownnonsynonymous SNVNM_001281736
NM_006375
NM_182314		c.G1462A
c.G1462A
c.G1549A		p.E488K
p.E488K
p.E517K		12.869.0E-4Chahrour2012 E
MAGEC3     AU070811chrX:
140985318-140985318		CGexonicUnknownnonsynonymous SNVNM_177456c.C880Gp.L294V9.6640.0096Chahrour2012 E
GAB3     AU070811chrX:
153940695-153940695		GAexonicUnknownnonsynonymous SNVNM_001081573
NM_001282283
NM_080612		c.C878T
c.C878T
c.C875T		p.S293F
p.S293F
p.S292F		9.4732.0E-4Chahrour2012 E
GLRA2     AU035204chrX:
14748509-14748509		AGexonicUnknownnonsynonymous SNVNM_001118886
NM_002063
NM_001118885
NM_001171942		c.A1261G
c.A1261G
c.A1261G
c.A994G		p.I421V
p.I421V
p.I421V
p.I332V		12.124.0E-4Chahrour2012 E
ZFX     AU035204chrX:
24197488-24197488		GCexonicUnknownnonsynonymous SNVNM_001178084
NM_001178095
NM_003410
NM_001178085		c.G247C
c.G247C
c.G247C
c.G247C		p.E83Q
p.E83Q
p.E83Q
p.E83Q		18.082.0E-4Chahrour2012 E
CCNB3     AU035204chrX:
50052737-50052737		CTexonicUnknownnonsynonymous SNVNM_033031c.C1568Tp.P523L10.171.0E-4Chahrour2012 E
BEX2     AU035204chrX:
102564711-102564711		TCexonicUnknownnonsynonymous SNVNM_001168399
NM_001168400
NM_001168401
NM_032621		c.A290G
c.A287G
c.A194G
c.A194G		p.Y97C
p.Y96C
p.Y65C
p.Y65C		10.841.0E-4Chahrour2012 E
SERPINA7     AU035204chrX:
105277495-105277495		GAexonicUnknownnonsynonymous SNVNM_000354c.C1244Tp.A415V12.631.0E-4Chahrour2012 E
ARHGEF6     AU035204chrX:
135767897-135767897		ATexonicUnknownnonsynonymous SNVNM_001306177
NM_004840		c.T869A
c.T1331A		p.I290N
p.I444N		13.624.56E-5Chahrour2012 E
ARMCX1     AU075308chrX:
100808130-100808130		GTexonicUnknownnonsynonymous SNVNM_016608c.G217Tp.D73Y9.7792.333E-5Chahrour2012 E
MAGIX     AU1328302chrX:
49021310-49021310		GAexonicUnknownnonsynonymous SNVNM_024859c.G389Ap.R130H17.320.0033Chahrour2012 E
BMP15     AU1328302chrX:
50653985-50653985		CTexonicUnknownnonsynonymous SNVNM_005448c.C202Tp.R68W11.830.001Chahrour2012 E
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
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