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Results for "ITGB2"

Variant Events: 21

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
ITGB2     1-0278-003Achr21:
46338914-46338914
TCintronicDe novo--Trost2022 G
ITGB2     1-0590-003chr21:
46312681-46312689
AAACAACAAAAACAAintronicDe novo--Yuen2017 G
ITGB2     MSSNG00002-004chr21:
46338902-46338902
GTintronicDe novo--Trost2022 G
ITGB2     SJD_27.3chr21:
46338895-46338895
ACintronicDe novo--Trost2022 G
ITGB2     MSSNG00052-003chr21:
46338880-46338880
AGintronicDe novo--Trost2022 G
ITGB2     1-0670-003chr21:
46330868-46330868
CTintronicDe novo--Trost2022 G
ITGB2     SP0113741 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
ITGB2     5-5185-003chr21:
46327720-46327720
CAintronicDe novo--Trost2022 G
ITGB2     MSSNG00042-004chr21:
46309255-46309255
ACexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.T1813G
c.T1813G
c.T1606G
p.S605A
p.S605A
p.S536A
1.355-Trost2022 G
Zhou2022 GE
ITGB2     SP0231246chr21:
46323494-46323494
ACintronicDe novo--Trost2022 G
ITGB2     Wang2023:799chr21:
46314926-46314926
TGexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.A1043C
c.A1043C
c.A836C
p.D348A
p.D348A
p.D279A
13.6-Wang2023 E
ITGB2     AU4336301chr21:
46326318-46326318
GAintronicDe novo--Trost2022 G
Yuen2017 G
ITGB2     06C55684Achr21:
46311861-46311861
CTexonicDe novosynonymous SNVNM_000211
NM_001127491
NM_001303238
c.G1275A
c.G1275A
c.G1068A
p.S425S
p.S425S
p.S356S
-8.354E-6Neale2012 E
ITGB2     AU0039303chr21:
46321112-46321112
CTintronicDe novo--Trost2022 G
Yuen2017 G
ITGB2     12991.p1chr21:
46309390-46309390
CTexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.G1678A
c.G1678A
c.G1471A
p.G560R
p.G560R
p.G491R
8.4768.218E-5Krumm2015 E
Zhou2022 GE
ITGB2     SP0174304chr21:
46323494-46323494
ACintronicDe novo--Trost2022 G
ITGB2     1-1090-003chr21:
46317110-46317110
CTintronicDe novo--Trost2022 G
ITGB2     SP0099035chr21:
46309312-46309312
GAexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.C1756T
c.C1756T
c.C1549T
p.R586W
p.R586W
p.R517W
16.580.0082Trost2022 G
ITGB2     SP0032458chr21:
46321598-46321598
GCexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.C550G
c.C550G
c.C343G
p.P184A
p.P184A
p.P115A
14.42-Fu2022 E
Trost2022 G
Zhou2022 GE
ITGB2     SP0012746chr21:
46308800-46308800
CTexonicDe novononsynonymous SNVNM_000211
NM_001127491
NM_001303238
c.G1888A
c.G1888A
c.G1681A
p.E630K
p.E630K
p.E561K
17.290.0054Trost2022 G
ITGB2     2-1818-003chr21:
46307775-46307775
GAintronicDe novo--Trost2022 G
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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