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Results for "IKZF2"

Variant Events: 82

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
IKZF2     PN400383chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     1-0464-003chr2:
214048619-214048619
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
IKZF2     PN400253chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     68631chr2:
213886838-213886838
CGexonicDe novononsynonymous SNVNM_016260
NM_001079526
c.G591C
c.G513C
p.K197N
p.K171N
21.1-Fu2022 E
IKZF2     PN400313chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400579chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400367chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400565chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400557chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400209chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400543chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     AU3728301chr2:
214077835-214077835
GCintergenicDe novo--Yuen2017 G
IKZF2     7-0095-003chr2:
213939917-213939917
AGintronicDe novo--Yuen2017 G
IKZF2     1-0339-003chr2:
214012814-214012819
ACTTTTAintronicDe novo--Yuen2017 G
IKZF2     AU3760302chr2:
214014700-214014700
AGintronicDe novo--Yuen2017 G
IKZF2     PN400359chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     2-0132-004chr2:
213799088-213799088
CAintergenicDe novo--Yuen2017 G
IKZF2     PN400104chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400266chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400171chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     AU3646301chr2:
213998341-213998341
GAintronicDe novo--Yuen2017 G
IKZF2     PN400474chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400125chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400195chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     AU038204chr2:
213907626-213907626
TAintronicDe novo--Yuen2017 G
IKZF2     Lim2017:68631chr2:
213886838-213886838
CGexonicDe novononsynonymous SNVNM_016260
NM_001079526
c.G591C
c.G513C
p.K197N
p.K171N
21.1-Lim2017 E
IKZF2     PN400375chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     AU3646301chr2:
214008729-214008729
GCintronicDe novo--Yuen2017 G
IKZF2     PN400581chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400285chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400341chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400512chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400277chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400539chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     5-0105-003chr2:
214057362-214057362
ATintergenicDe novo--Yuen2017 G
IKZF2     PN400157chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400128chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400186chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400361chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400527chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400108chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400240chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400544chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400412chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     1-0405-003chr2:
214071012-214071012
CGintergenicDe novo--Yuen2017 G
IKZF2     PN400476chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400230chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     1-0279-004chr2:
214090622-214090622
AGintergenicDe novo--Yuen2017 G
IKZF2     AU072504chr2:
214089584-214089584
GAintergenicDe novo--Yuen2017 G
IKZF2     AU3635301chr2:
214073985-214073985
CTintergenicDe novo--Yuen2017 G
IKZF2     PN400379chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400575chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400119chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400178chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400127chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400506chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400554chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400279chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400489chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400297chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400528chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400521chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400257chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400283chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400166chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400231chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400576chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     2-1093-009chr2:
214035311-214035311
GAintergenicDe novo--Yuen2017 G
IKZF2     PN400515chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     1-0139-005chr2:
213972343-213972343
TTAintronicDe novo--Yuen2017 G
IKZF2     PN400542chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400534chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     13874.p1chr2:
214115855-214115855
CAintergenicDe novo--Turner2016 G
IKZF2     PN400416chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     11456.p1chr2:
214096539-214096539
GAintergenicDe novo--Turner2016 G
IKZF2     PN400259chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     11577.p1chr2:
213886838-213886838
CGexonicDe novo, Mosaicnonsynonymous SNVNM_016260
NM_001079526
c.G591C
c.G513C
p.K197N
p.K171N
21.1-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
IKZF2     PN400587chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400246chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400284chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400117chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 E
IKZF2     PN400219chr2:
214012403-214012405
CAACintronicUnknown-0.2884Leblond2019 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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