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Results for "IQGAP3"

Variant Events: 31

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
IQGAP3     iHART1003chr1:
156517999-156517999
GAexonicPaternalstopgainNM_178229c.C2170Tp.Q724X39.08.28E-6Ruzzo2019 G
IQGAP3     Stessman2017:ASD_1344-1chr1:
156534474-156534474
GAexonicUnknownnonsynonymous SNVNM_178229c.C370Tp.P124S32.0-Stessman2017 T
IQGAP3     M13451chr1:
156506972-156506972
CAsplicingUnknownsplicing23.0-Guo2018 T
Wang2016 T
IQGAP3     iHART2253chr1:
156533066-156533066
GAexonicPaternalstopgainNM_178229c.C658Tp.R220X38.05.045E-5Ruzzo2019 G
IQGAP3     B6U2X Complex Event; expand row to view variants  Unknownnonsynonymous SNVNM_178229
NM_178229
c.G125T
c.G125A
p.R42L
p.R42H
32.01.758E-5Stessman2017 T
Stessman2017 T
IQGAP3     220-9924-201chr1:
156533603-156533603
GAexonicUnknownnonsynonymous SNVNM_178229c.C451Tp.R151W24.68.699E-5Stessman2017 T
IQGAP3     03C19911chr1:
156507049-156507049
CAexonicUnknownnonsynonymous SNVNM_178229c.G3346Tp.D1116Y24.81.65E-5Stessman2017 T
IQGAP3     08C79609chr1:
156517835-156517835
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
IQGAP3     EGAN00001100887chr1:
156533080-156533080
TCexonicDe novononsynonymous SNVNM_178229c.A644Gp.N215S27.67.0E-4Satterstrom2020 E
IQGAP3     217-14295-4160chr1:
156517944-156517944
CTexonicUnknownnonsynonymous SNVNM_178229c.G2225Ap.R742H27.02.561E-5Stessman2017 T
IQGAP3     210-18144-302chr1:
156510583-156510583
GAexonicInheritedstopgainNM_178229c.C2656Tp.R886X41.0-Stessman2017 T
IQGAP3     07C69352chr1:
156533628-156533628
CTintronicDe novo-6.345E-5Satterstrom2020 E
IQGAP3     05C47096chr1:
156524111-156524111
TAexonicUnknownnonsynonymous SNVNM_178229c.A1364Tp.E455V21.4-Stessman2017 T
IQGAP3     11067.p1chr1:
156503911-156503911
GCexonicDe novononsynonymous SNVNM_178229c.C3763Gp.Q1255E12.55-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
IQGAP3     14531.p1chr1:
156536205-156536205
CTexonicDe novononsynonymous SNVNM_178229c.G259Ap.D87N27.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
IQGAP3     211-5214-3chr1:
156517999-156517999
GAexonicMaternalstopgainNM_178229c.C2170Tp.Q724X39.08.28E-6Stessman2017 T
IQGAP3     M02383chr1:
156497764-156497764
GAexonicUnknownstopgainNM_178229c.C4762Tp.R1588X43.02.472E-5Guo2018 T
Wang2016 T
IQGAP3     GX0023.p1chr1:
156508601-156508602
CTCexonicMaternalframeshift deletionNM_178229c.3280delAp.S1094fs--Guo2018 T
IQGAP3     M15113chr1:
156496375-156496375
TAexonicUnknownnonsynonymous SNVNM_178229c.A4799Tp.Q1600L25.3-Stessman2017 T
IQGAP3     343479chr1:
156505040-156505040
CTsplicingUnknownsplicing20.38.356E-6Stessman2017 T
IQGAP3     M17418chr1:
156514254-156514254
CTexonicUnknownnonsynonymous SNVNM_178229c.G2315Ap.R772Q22.4-Stessman2017 T
IQGAP3     P3W4Nchr1:
156535883-156535883
TAexonicUnknownnonsynonymous SNVNM_178229c.A296Tp.H99L26.28.237E-6Stessman2017 T
IQGAP3     370627chr1:
156504393-156504393
GAexonicInheritedstopgainNM_178229c.C3640Tp.Q1214X42.0-Stessman2017 T
IQGAP3     219-2309-0001chr1:
156531701-156531701
GAexonicInheritedstopgainNM_178229c.C970Tp.R324X37.03.3E-5Stessman2017 T
IQGAP3     M17423 Complex Event; expand row to view variants  Unknownnonsynonymous SNVNM_178229
NM_178229
c.G188A
c.G188T
p.R63Q
p.R63L
28.37.452E-5Stessman2017 T
Stessman2017 T
IQGAP3     AU059903chr1:
156534435-156534435
GAexonicUnknownnonsynonymous SNVNM_178229c.C409Tp.R137W22.95.765E-5Stessman2017 T
IQGAP3     GX0392.p1chr1:
156506973-156506973
GAexonicPaternalnonsynonymous SNVNM_178229c.C3422Tp.P1141L32.0-Guo2018 T
IQGAP3     410545chr1:
156514208-156514209
AAAexonicInheritedframeshift deletionNM_178229c.2360delTp.F787fs--Stessman2017 T
IQGAP3     217-14135-2330chr1:
156524136-156524136
CTexonicUnknownnonsynonymous SNVNM_178229c.G1339Ap.V447M28.5-Stessman2017 T
IQGAP3     GX0510.p1chr1:
156513966-156513966
CTexonicMaternalnonsynonymous SNVNM_178229c.G2438Ap.R813H34.08.237E-6Guo2018 T
IQGAP3     Stessman2017:ASD_1343-1chr1:
156534474-156534474
GAexonicUnknownnonsynonymous SNVNM_178229c.C370Tp.P124S32.0-Stessman2017 T
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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