or
or
Exact

Results for "ITGBL1"

Variant Events: 40

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
ITGBL1     mAGRE2039chr13:
102220137-102220138
CACexonicMaternalframeshift deletionNM_001271756
NM_004791
c.126delA
c.405delA
p.T42fs
p.T135fs
--Cirnigliaro2023 G
ITGBL1     7-0002-003chr13:
102106000-102106000
CAintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     AU2427303chr13:
102296410-102296410
GAintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     7-0100-004chr13:
102191158-102191158
AGintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     Codina-Sola2015:ASD_15chr13:
102231739-102231740
AGAexonicPaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Codina-Sola2015 E
ITGBL1     iHART1905chr13:
102231739-102231740
AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Ruzzo2019 G
ITGBL1     2-1620-004chr13:
102219420-102219420
CTintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     mAGRE4663chr13:
102235620-102235620
GAexonicMaternalstopgainNM_001271754
NM_001271755
NM_001271756
NM_004791
c.G359A
c.G635A
c.G503A
c.G782A
p.W120X
p.W212X
p.W168X
p.W261X
37.0-Cirnigliaro2023 G
ITGBL1     1-0539-003chr13:
102112997-102112997
GAintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     mAGRE4662chr13:
102235620-102235620
GAexonicMaternalstopgainNM_001271754
NM_001271755
NM_001271756
NM_004791
c.G359A
c.G635A
c.G503A
c.G782A
p.W120X
p.W212X
p.W168X
p.W261X
37.0-Cirnigliaro2023 G
ITGBL1     iHART1901chr13:
102231739-102231740
AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Ruzzo2019 G
ITGBL1     mAGRE1905chr13:
102231739-102231740
AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Cirnigliaro2023 G
ITGBL1     iHART2039chr13:
102220137-102220138
CACexonicMaternalframeshift deletionNM_001271756
NM_004791
c.126delA
c.405delA
p.T42fs
p.T135fs
--Ruzzo2019 G
ITGBL1     mAGRE1901chr13:
102231739-102231740
AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Cirnigliaro2023 G
ITGBL1     2-0272-003chr13:
102276553-102276554
CTCintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     Codina-Sola2015:ASD_19chr13:
102231739-102231740
AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791
c.266delG
c.542delG
c.410delG
c.689delG
p.R89fs
p.R181fs
p.R137fs
p.R230fs
-6.624E-5Codina-Sola2015 E
ITGBL1     2-0144-004chr13:
102279127-102279127
AGintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     11729.p1chr13:
102327460-102327460
CGintronicDe novo--Wilfert2021 G
ITGBL1     14370.p1chr13:
102350191-102350191
CTintronicDe novo--Turner2016 G
ITGBL1     AU3918301chr13:
102208418-102208418
AGintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     AU3874301chr13:
102105794-102105794
CTintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     MSSNG00368-003chr13:
102237062-102237062
CTintronicDe novo--Trost2022 G
ITGBL1     2-1632-003chr13:
102122313-102122313
GAintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     MSSNG00052-003chr13:
102258419-102258419
GGATintronicDe novo--Trost2022 G
ITGBL1     AU0039303chr13:
102358828-102358828
TCintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     AU2320301chr13:
102175464-102175464
TCintronicDe novo--Trost2022 G
ITGBL1     1-1210-003chr13:
102196139-102196139
CTintronicDe novo--Trost2022 G
ITGBL1     AU055603chr13:
102156892-102156892
TCintronicDe novo--Trost2022 G
ITGBL1     REACH000727chr13:
102171677-102171677
AGintronicDe novo--Trost2022 G
ITGBL1     MSSNG00415-003chr13:
102131504-102131504
CAintronicDe novo--Trost2022 G
ITGBL1     1-1063-004chr13:
102343156-102343156
CCAintronicDe novo--Trost2022 G
ITGBL1     7-0381-003chr13:
102359840-102359841
GCGintronicDe novo--Trost2022 G
ITGBL1     AU3263301chr13:
102272742-102272742
TGintronicDe novo--Trost2022 G
Yuen2017 G
ITGBL1     MSSNG00027-004chr13:
102332874-102332874
GAintronicDe novo--Trost2022 G
ITGBL1     4-0049-003chr13:
102336296-102336296
TCintronicDe novo--Trost2022 G
ITGBL1     AU2250301chr13:
102322239-102322239
TCintronicDe novo--Trost2022 G
ITGBL1     MSSNG00350-004chr13:
102326895-102326899
ATTTCAintronicDe novo--Trost2022 G
ITGBL1     AU3190305chr13:
102193442-102193442
GAintronicDe novo--Yuen2017 G
ITGBL1     3-0707-000chr13:
102309915-102309915
GTintronicDe novo--Trost2022 G
ITGBL1     MSSNG00401-003chr13:
102318294-102318294
TGintronicDe novo--Trost2022 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 notesView
More