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Results for "IQSEC2"

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
IQSEC2     ASP023chrX:
53268427-53268427
CTexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.G3065A
c.G2450A
p.R1022H
p.R817H
30.01.157E-5Satterstrom2020 E
IQSEC2     3E469chrX:
53279480-53279480
CTexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.G2278A
c.G1663A
p.G760S
p.G555S
24.7-Satterstrom2020 E
IQSEC2     Mahjani2021:52chrX:
53284038-53284038
GAexonicnonsynonymous SNVNM_001111125
NM_015075
c.C1075T
c.C460T
p.R359C
p.R154C
25.4-Mahjani2021 E
IQSEC2     80001102558chrX:
53268477-53268477
CTsplicingDe novosplicing27.0-Satterstrom2020 E
IQSEC2     2-0240-004chrX:
53372919-53372919
AAGintergenicDe novo--Yuen2017 G
IQSEC2     Y9P8UchrX:
53279669-53279669
CTexonicUnknownnonsynonymous SNVNM_001111125
NM_015075
c.G2089A
c.G1474A
p.E697K
p.E492K
19.69-Stessman2017 T
IQSEC2     Ishay2021:16chrX:
53264327-53264327
GAexonicMaternalnonsynonymous SNVNM_001111125c.C3541Tp.P1181S3.2856.0E-4Ishay2021 E
IQSEC2     AU076603chrX:
53283884-53283885
GGGexonicUnknownframeshift deletionNM_001111125
NM_015075
c.1228delC
c.613delC
p.P410fs
p.P205fs
--Zhou2019 T
IQSEC2     G01-GEA-237-HIchrX:
53270998-53270998
GAexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.C2983T
c.C2368T
p.R995W
p.R790W
21.8-Satterstrom2020 E
IQSEC2     JASD_Fam0156chrX:
53268427-53268427
CTexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.G3065A
c.G2450A
p.R1022H
p.R817H
30.01.157E-5Takata2018 E
IQSEC2     Cherot2017:3chrX:
53272549-53272549
GAexonicUnknownstopgainNM_001111125
NM_015075
c.C2854T
c.C2239T
p.Q952X
p.Q747X
40.0-Cherot2017 E
IQSEC2     Mahjani2021:140chrX:
53268477-53268477
CTsplicingsplicing27.0-Mahjani2021 E
IQSEC2     13393.p1chrX:
53290879-53290879
CTintronicDe novo--Turner2016 G
IQSEC2     MAC1179chrX:
53276183-53276183
AGexonicDe novononsynonymous SNVNM_001111125
NM_015075
c.T2717C
c.T2102C
p.M906T
p.M701T
17.46-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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