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Results for "ITGB1"

Variant Events: 15

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
ITGB1     AU4435301chr10:
33441917-33441917
AGintergenicDe novo--Yuen2017 G
ITGB1     AU046707chr10:
33308687-33308687
GTintergenicDe novo--Yuen2017 G
ITGB1     AU046707chr10:
33430323-33430323
CTintergenicDe novo--Yuen2017 G
ITGB1     1-0067-005chr10:
33274110-33274123
ACAATATTTATTGTAintergenicDe novo--Yuen2017 G
ITGB1     2-1246-003chr10:
33404306-33404306
GAintergenicDe novo--Yuen2017 G
ITGB1     5-0073-003chr10:
33195471-33195471
TCintronicDe novo6.41-Yuen2017 G
ITGB1     AU3779304chr10:
33220999-33220999
GCintronicDe novo--Yuen2017 G
ITGB1     11568.p1chr10:
33200439-33200439
GAexonicDe novononsynonymous SNVNM_033668
NM_002211
NM_133376
c.C1868T
c.C1868T
c.C1868T
p.P623L
p.P623L
p.P623L
19.013.295E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
ITGB1     AU4356302chr10:
33372258-33372258
GCintergenicDe novo--Yuen2017 G
ITGB1     1-0524-003chr10:
33388442-33388442
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
ITGB1     AU025704chr10:
33201756-33201756
CGintronicDe novo--Yuen2017 G
ITGB1     AU055004chr10:
33213796-33213796
TCintronicDe novo--Yuen2017 G
ITGB1     7-0059-003chr10:
33266634-33266634
GAintergenicDe novo--Yuen2017 G
ITGB1     2-0270-004chr10:
33415663-33415663
GCintergenicDe novo--Yuen2017 G
ITGB1     1-0403-004chr10:
33250375-33250375
CGintergenicDe novo--Yuen2017 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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