Variant Results

or

or

Results for "ABTB2"

Variant Events: 24

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

ABTB2

AU3636302

chr11:
34398280-34398280

G

A

intergenic

De novo

-

-

Yuen2017 G

ABTB2

13143.p1

chr11:
34328927-34328927

C

T

intronic

De novo

-

-

Wilfert2021 G

ABTB2

AU3905302

chr11:
34285213-34285222

ACCAGCCCAG

ACCAG

intronic

De novo

-

-

Yuen2017 G

ABTB2

2-0242-005

chr11:
34365060-34365060

T

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

3-0482-000

chr11:
34430071-34430071

G

T

intergenic

De novo

-

-

Yuen2017 G

ABTB2

1-0141-003

chr11:
34397397-34397397

G

T

intergenic

De novo

-

-

Yuen2017 G

ABTB2

2-1318-004

chr11:
34365060-34365060

T

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

5-0033-004

chr11:
34197687-34197687

C

T

intronic

De novo

-

-

Yuen2017 G

ABTB2

AU2035301

chr11:
34323457-34323459

CCA

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

AU2165301

chr11:
34424257-34424257

C

T

intergenic

De novo

-

-

Yuen2017 G

ABTB2

1-0756-005

chr11:
34313349-34313349

G

A

intronic

De novo

-

-

Yuen2017 G

ABTB2

AU2035302

chr11:
34323457-34323459

CCA

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

SP0065034

chr11:
34186812-34186812

G

C

exonic

De novo

nonsynonymous SNV

NM_145804

c.C1847G

p.A616G

16.98

-

Fu2022 E

ABTB2

2-1174-006

chr11:
34247257-34247257

G

A

intronic

De novo

-

-

Yuen2017 G

ABTB2

AU3636301

chr11:
34398280-34398280

G

A

intergenic

De novo

-

-

Yuen2017 G

ABTB2

13171.p1

chr11:
34232653-34232653

T

C

intronic

De novo

-

-

Turner2016 G

ABTB2

5-0103-003

chr11:
34286339-34286339

A

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

AU1404302

chr11:
34242921-34242921

G

A

intronic

De novo

-

-

Yuen2017 G

ABTB2

2-0063-003

chr11:
34175554-34175554

C

G

intronic

De novo

-

-

Yuen2017 G

ABTB2

1-0382-003

chr11:
34365141-34365141

T

C

intronic

De novo

-

-

Yuen2017 G

ABTB2

1-0497-003

chr11:
34459469-34459469

T

A

intergenic

De novo

-

-

Yuen2017 G

ABTB2

7-0256-003

chr11:
34172513-34172513

C

A

downstream

De novo

-

-

Yuen2017 G

ABTB2

1-0868-003

chr11:
34444525-34444525

G

T

intergenic

De novo

-

-

Yuen2017 G

ABTB2

AU3905301

chr11:
34449739-34449748

AACTTACTTA

AACTTA

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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