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Results for "IQGAP2"

Variant Events: 16

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
IQGAP2     2-1303-003chr5:
75723464-75723466
CATCintronicDe novo--Yuen2017 G
IQGAP2     1-0706-003chr5:
75962773-75962773
GAintronicDe novo--Yuen2017 G
IQGAP2     12752.p1chr5:
75902128-75902128
CTexonicDe novostopgainNM_001285460
NM_006633
c.C1207T
c.C1357T
p.R403X
p.R453X
37.01.695E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
IQGAP2     2-1297-003chr5:
75979270-75979270
GTintronicDe novo--Yuen2017 G
IQGAP2     3-0209-000chr5:
75980380-75980380
TCintronicDe novo--Yuen2017 G
IQGAP2     AU4007301chr5:
75807511-75807511
GTintronicDe novo--Yuen2017 G
IQGAP2     AU3302302chr5:
75705736-75705738
TCCTCintronicDe novo--Yuen2017 G
IQGAP2     1-0214-003chr5:
76002775-76002775
AGintronicDe novo--Yuen2017 G
IQGAP2     Cukier2014:7637chr5:
75960968-75960968
GCexonicUnknownnonsynonymous SNVNM_001285461
NM_001285462
NM_001285460
NM_006633
c.G1135C
c.G1135C
c.G2497C
c.G2647C
p.E379Q
p.E379Q
p.E833Q
p.E883Q
28.90.0034Cukier2014 E
IQGAP2     1-0054-004chr5:
75776781-75776781
AGintronicDe novo--Yuen2017 G
IQGAP2     1-0486-003chr5:
75864725-75864725
TCintronicDe novo--Yuen2017 G
IQGAP2     2-1389-003chr5:
75930430-75930430
GCintronicDe novo--Yuen2016 G
Yuen2017 G
IQGAP2     AU000704chr5:
75712153-75712153
ATintronicDe novo--Yuen2017 G
IQGAP2     AU3937301chr5:
75721416-75721416
CGintronicDe novo--Yuen2017 G
IQGAP2     1-0469-005chr5:
75925057-75925057
TCintronicDe novo--Yuen2017 G
IQGAP2     80001104504chr5:
75973032-75973032
CTintronicDe novo--Satterstrom2020 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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