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Results for "IQSEC3"

Variant Events: 14

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
IQSEC3     2-0057-003chr12:
295451-295453
CAGCintergenicDe novo--Yuen2017 G
IQSEC3     SP0046962chr12:
278237-278237
GCexonicDe novononsynonymous SNVNM_015232
NM_001170738
c.G2121C
c.G3030C
p.Q707H
p.Q1010H
18.53-Fu2022 E
IQSEC3     SP0028690chr12:
186507-186507
CTintronicDe novo--Fu2022 E
IQSEC3     AU078503chr12:
286642-286642
CAUTR3De novo--Yuen2017 G
IQSEC3     A10chr12:
192675-192675
GAintronicDe novo--Wu2018 G
IQSEC3     7-0119-003chr12:
235741-235741
GAintronicDe novo--Yuen2017 G
IQSEC3     2-1239-003chr12:
236215-236215
GAintronicDe novo--Yuen2016 G
Yuen2017 G
IQSEC3     1-0354-003chr12:
267079-267079
GAintronicDe novo--Yuen2017 G
IQSEC3     ASC_NP275chr12:
247972-247972
CTexonicDe novosynonymous SNVNM_015232
NM_001170738
c.C534T
c.C1443T
p.L178L
p.L481L
--Fu2022 E
IQSEC3     1-0998-003chr12:
281494-281500
GCCCCCCGCCCCCCCintronicDe novo--Yuen2017 G
IQSEC3     2-1277-003chr12:
258663-258663
TCintronicDe novo--Yuen2017 G
IQSEC3     60-1057chr12:
283924-283924
CGexonicInheritednonsynonymous SNVNM_001170738c.C3274Gp.Q1092E20.44.0E-4Patowary2019 E
IQSEC3     111305chr12:
266860-266860
GAexonicnonsynonymous SNVNM_015232
NM_001170738
c.G1534A
c.G2443A
p.G512S
p.G815S
25.7-Woodbury-Smith2022 E
IQSEC3     ASC_CA_188_Achr12:
248096-248096
GAexonicDe novononsynonymous SNVNM_015232
NM_001170738
c.G658A
c.G1567A
p.A220T
p.A523T
12.56-Fu2022 E
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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