Variant Results

or

Results for "APBB2"

Variant Events: 49

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

APBB2

7-0143-003

chr4:
41166610-41166610

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

MSSNG00067-003

chr4:
40939912-40939912

T

A

intronic

De novo

-

Trost2022 G

APBB2

7-0483-003

chr4:
40958257-40958257

C

T

intronic

De novo

-

Trost2022 G

APBB2

1-0731-003

chr4:
40901729-40901736

ATTTCTCT

A

intronic

De novo

-

Trost2022 G

APBB2

AU051503

chr4:
40905027-40905027

G

T

intronic

De novo

-

Trost2022 G

APBB2

5-5209-003

chr4:
40887950-40887951

CT

C

intronic

De novo

-

Trost2022 G

APBB2

2-1425-004

chr4:
40884041-40884041

A

AGACCATAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

MT_24.3

chr4:
40897222-40897222

T

G

intronic

De novo

-

Trost2022 G

APBB2

5-0068-003

chr4:
40834521-40834521

G

T

intronic

De novo

-

Trost2022 G

APBB2

4-0002-003

chr4:
40857634-40857634

T

TC

intronic

De novo

-

Trost2022 G

APBB2

MCD-008-3

chr4:
41015866-41015866

G

T

exonic

Both parents

nonsynonymous SNV

NM_001166050
NM_004307
NM_173075

c.C569A
c.C569A
c.C569A

p.S190Y
p.S190Y
p.S190Y

7.394

5.0E-4

Tuncay2023 G

APBB2

1-1169-003

chr4:
41069604-41069604

T

C

intronic

De novo

-

Trost2022 G

APBB2

4-0040-004

chr4:
41106078-41106078

G

T

intronic

De novo

-

Trost2022 G

APBB2

MSSNG00036-003A

chr4:
41024769-41024769

G

C

intronic

De novo

-

Trost2022 G

APBB2

2-1772-003

chr4:
41050225-41050225

G

C

intronic

De novo

-

Trost2022 G

APBB2

7-0192-003

chr4:
40900084-40900084

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

1-1006-003A

chr4:
41008898-41008900

CAG

C

intronic

De novo

-

Trost2022 G

APBB2

AU2950301

chr4:
40966913-40966913

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

4-0062-003

chr4:
41024229-41024230

AC

TT

intronic

De novo

-

Trost2022 G

APBB2

iHART2231

chr4:
40947091-40947091

C

A

splicing

Unknown

splicing

12.32

3.0E-4

Ruzzo2019 G

APBB2

2-1433-004

chr4:
40960241-40960241

T

A

intronic

De novo

-

Trost2022 G

APBB2

iHART2230

chr4:
40947091-40947091

C

A

splicing

Unknown

splicing

12.32

3.0E-4

Ruzzo2019 G

APBB2

1-1204-004

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

APBB2

7-0392-005

chr4:
41212836-41212836

A

C

intronic

De novo

-

Trost2022 G

APBB2

AU2718301

chr4:
41190109-41190109

G

A

intronic

De novo

-

Trost2022 G

APBB2

5-5098-003

chr4:
41204451-41204451

C

T

intronic

De novo

-

Trost2022 G

APBB2

1-0990-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

APBB2

1-1175-003

chr4:
41160672-41160672

G

C

intronic

De novo

-

Trost2022 G

APBB2

5-0085-003

chr4:
41179795-41179795

C

A

intronic

De novo

-

Trost2022 G

APBB2

1-0049-004

chr4:
41107328-41107329

CA

C

intronic

De novo

-

Trost2022 G

APBB2

1-0654-003

chr4:
41126242-41126243

AT

A

intronic

De novo

-

Trost2022 G

APBB2

13169.p1

chr4:
40818170-40818170

C

G

exonic

Mosaic

nonsynonymous SNV

NM_001166051
NM_001166052
NM_001166053
NM_001166054
NM_173075
NM_001166050
NM_004307

c.G572C
c.G572C
c.G572C
c.G572C
c.G2150C
c.G2216C
c.G2219C

p.R191P
p.R191P
p.R191P
p.R191P
p.R717P
p.R739P
p.R740P

20.8

-

Krupp2017 E
Zhou2022 GE

APBB2

AU4054302

chr4:
41162374-41162374

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

2-1281-003

chr4:
41205654-41205654

A

G

intronic

De novo

-

Yuen2017 G

APBB2

1-0285-004

chr4:
40814139-40814139

G

GTTAC

UTR3

De novo

-

Trost2022 G
Yuen2017 G

APBB2

AU2433302

chr4:
41077829-41077829

A

G

intronic

De novo

-

Yuen2017 G

APBB2

1-0675-003

chr4:
40836524-40836524

C

T

intronic

De novo

-

Yuen2017 G

APBB2

1-0112-004

chr4:
40824712-40824712

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

2-1094-005

chr4:
40976578-40976578

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

1-0400-003

chr4:
41067860-41067860

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

mAGRE2231

chr4:
40947091-40947091

C

A

splicing

Maternal

splicing

12.32

3.0E-4

Cirnigliaro2023 G

APBB2

mAGRE2230

chr4:
40947091-40947091

C

A

splicing

Maternal

splicing

12.32

3.0E-4

Cirnigliaro2023 G

APBB2

AU060703

chr4:
40899089-40899089

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

1-0329-004

chr4:
40936273-40936273

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

SP0115276

chr4:
41015679-41015679

G

A

exonic

De novo

synonymous SNV

NM_001166050
NM_004307
NM_173075

c.C756T
c.C756T
c.C756T

p.N252N
p.N252N
p.N252N

0.75

2.484E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

APBB2

2-1375-003

chr4:
40982988-40982988

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

AU4056302

chr4:
41213082-41213082

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB2

14-1014

chr4:
40813948-40813948

C

A

UTR3

De novo

-

Trost2022 G
Trost2022 G

APBB2

4-0064-003

chr4:
40816440-40816440

G

A

UTR3

De 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 notes	View
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