Variant Results

or

or

Results for "ITGBL1"

Variant Events: 20

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

7-0002-003

chr13:
102106000-102106000

C

A

intronic

De novo

-

-

Yuen2017 G

ITGBL1

AU2427303

chr13:
102296410-102296410

G

A

intronic

De novo

-

-

Yuen2017 G

ITGBL1

14370.p1

chr13:
102350191-102350191

C

T

intronic

De novo

-

-

Turner2016 G

ITGBL1

7-0100-004

chr13:
102191158-102191158

A

G

intronic

De novo

-

-

Yuen2017 G

ITGBL1

Codina-Sola2015:ASD_15

chr13:
102231739-102231740

AG

A

exonic

Paternal

frameshift deletion

NM_001271754
NM_001271755
NM_001271756
NM_004791

c.266delG
c.542delG
c.410delG
c.689delG

p.R89fs
p.R181fs
p.R137fs
p.R230fs

-

Codina-Sola2015 E

ITGBL1

iHART1905

chr13:
102231739-102231740

AG

A

exonic

Maternal

frameshift deletion

NM_001271754
NM_001271755
NM_001271756
NM_004791

c.266delG
c.542delG
c.410delG
c.689delG

p.R89fs
p.R181fs
p.R137fs
p.R230fs

-

Ruzzo2019 G

ITGBL1

2-1620-004

chr13:
102219420-102219420

C

T

intronic

De novo

-

-

Yuen2017 G

ITGBL1

AU3918301

chr13:
102208418-102208418

A

G

intronic

De novo

-

-

Yuen2017 G

ITGBL1

1-0539-003

chr13:
102112997-102112997

G

A

intronic

De novo

-

-

Yuen2017 G

ITGBL1

iHART1901

chr13:
102231739-102231740

AG

A

exonic

Maternal

frameshift deletion

NM_001271754
NM_001271755
NM_001271756
NM_004791

c.266delG
c.542delG
c.410delG
c.689delG

p.R89fs
p.R181fs
p.R137fs
p.R230fs

-

Ruzzo2019 G

ITGBL1

iHART2039

chr13:
102220137-102220138

CA

C

exonic

Maternal

frameshift deletion

NM_001271756
NM_004791

c.126delA
c.405delA

p.T42fs
p.T135fs

-

-

Ruzzo2019 G

ITGBL1

AU3874301

chr13:
102105794-102105794

C

T

intronic

De novo

-

-

Yuen2017 G

ITGBL1

2-1632-003

chr13:
102122313-102122313

G

A

intronic

De novo

-

-

Yuen2017 G

ITGBL1

AU0039303

chr13:
102358828-102358828

T

C

intronic

De novo

-

-

Yuen2017 G

ITGBL1

2-0272-003

chr13:
102276553-102276554

CT

C

intronic

De novo

-

-

Yuen2017 G

ITGBL1

Codina-Sola2015:ASD_19

chr13:
102231739-102231740

AG

A

exonic

Maternal

frameshift deletion

NM_001271754
NM_001271755
NM_001271756
NM_004791

c.266delG
c.542delG
c.410delG
c.689delG

p.R89fs
p.R181fs
p.R137fs
p.R230fs

-

Codina-Sola2015 E

ITGBL1

2-0144-004

chr13:
102279127-102279127

A

G

intronic

De novo

-

-

Yuen2017 G

ITGBL1

AU3263301

chr13:
102272742-102272742

T

G

intronic

De novo

-

-

Yuen2017 G

ITGBL1

AU3190305

chr13:
102193442-102193442

G

A

intronic

De novo

-

-

Yuen2017 G

ITGBL1

11729.p1

chr13:
102327460-102327460

C

G

intronic

De novo

-

-

Wilfert2021 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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