Variant Results

or

Results for "ITGB1"

Variant Events: 19

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

AU4435301

chr10:
33441917-33441917

A

G

intergenic

De novo

-

Yuen2017 G

ITGB1

SP0110819

chr10:
33190547-33190547

T

C

exonic

De novo

nonsynonymous SNV

NM_002211
NM_133376

c.A2348G
c.A2348G

p.Y783C
p.Y783C

16.78

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

ITGB1

AU046707

chr10:
33308687-33308687

G

T

intergenic

De novo

-

Yuen2017 G

ITGB1

AU046707

chr10:
33430323-33430323

C

T

intergenic

De novo

-

Yuen2017 G

ITGB1

1-0067-005

chr10:
33274110-33274123

ACAATATTTATTGT

A

intergenic

De novo

-

Yuen2017 G

ITGB1

2-1246-003

chr10:
33404306-33404306

G

A

intergenic

De novo

-

Yuen2017 G

ITGB1

5-0073-003

chr10:
33195471-33195471

T

C

intronic

De novo

6.41

-

Yuen2017 G
Zhou2022 GE

ITGB1

AU3779304

chr10:
33220999-33220999

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGB1

11568.p1

chr10:
33200439-33200439

G

A

exonic

De novo

nonsynonymous SNV

NM_033668
NM_002211
NM_133376

c.C1868T
c.C1868T
c.C1868T

p.P623L
p.P623L
p.P623L

19.01

3.295E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ITGB1

AU4356302

chr10:
33372258-33372258

G

C

intergenic

De novo

-

Yuen2017 G

ITGB1

1-0524-003

chr10:
33388442-33388442

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ITGB1

3-0475-000

chr10:
33245377-33245377

T

G

intronic

De novo

-

Trost2022 G

ITGB1

AU025704

chr10:
33201756-33201756

C

G

intronic

De novo

-

Yuen2017 G

ITGB1

AU055004

chr10:
33213796-33213796

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ITGB1

68623

chr10:
33200439-33200439

G

A

exonic

De novo

nonsynonymous SNV

NM_033668
NM_002211
NM_133376

c.C1868T
c.C1868T
c.C1868T

p.P623L
p.P623L
p.P623L

19.01

3.295E-5

Fu2022 E
Trost2022 G

ITGB1

80001100711

chr10:
33218972-33218972

T

TTGAATTTGTGCACCACCCACAATTTGGCCCTGCTTGTATACATTCTCCACATGATTTGGCATTTGCTTTTAAACATCTATTTTCATCTGTTTGAGCAAACACACAGCAAACTGAA

exonic

De novo

stopgain

NM_033668
NM_002211
NM_133376

c.153_154insTTCAGTTTGCTGTGTGTTTGCTCAAACAGATGAAAATAGATGTTTAAAAGCAAATGCCAAATCATGTGGAGAATGTATACAAGCAGGGCCAAATTGTGGGTGGTGCACAAATTCA
c.153_154insTTCAGTTTGCTGTGTGTTTGCTCAAACAGATGAAAATAGATGTTTAAAAGCAAATGCCAAATCATGTGGAGAATGTATACAAGCAGGGCCAAATTGTGGGTGGTGCACAAATTCA
c.153_154insTTCAGTTTGCTGTGTGTTTGCTCAAACAGATGAAAATAGATGTTTAAAAGCAAATGCCAAATCATGTGGAGAATGTATACAAGCAGGGCCAAATTGTGGGTGGTGCACAAATTCA

p.T52_F53delinsFSLLCVCSNRX
p.T52_F53delinsFSLLCVCSNRX
p.T52_F53delinsFSLLCVCSNRX

-

Fu2022 E

ITGB1

7-0059-003

chr10:
33266634-33266634

G

A

intergenic

De novo

-

Yuen2017 G

ITGB1

2-0270-004

chr10:
33415663-33415663

G

C

intergenic

De novo

-

Yuen2017 G

ITGB1

1-0403-004

chr10:
33250375-33250375

C

G

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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