Variant Results

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or

Results for "ACOT7"

Variant Events: 22

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

ACOT7

2-1280-003

chr1:
6368683-6368683

A

G

intronic

De novo

-

-

Yuen2017 G

ACOT7

AU3645301

chr1:
6453930-6453930

G

T

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

ACOT7

AU4433301

chr1:
6370254-6370254

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACOT7

1-0206-003

chr1:
6397177-6397177

C

T

intronic

De novo

-

-

Yuen2017 G

ACOT7

1-0226-005

chr1:
6383123-6383123

A

AAGTT

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACOT7

SP0047040

chr1:
6409901-6409901

C

T

exonic

De novo

nonsynonymous SNV

NM_007274
NM_181864
NM_181865
NM_181866

c.G169A
c.G199A
c.G109A
c.G46A

p.V57M
p.V67M
p.V37M
p.V16M

14.57

Fu2022 E
Trost2022 G
Zhou2022 GE

ACOT7

REACH000668

chr1:
6375638-6375638

C

T

intronic

De novo

-

-

Trost2022 G

ACOT7

1-1149-003

chr1:
6368770-6368770

G

C

intronic

De novo

-

-

Trost2022 G

ACOT7

MSSNG00054-004

chr1:
6386154-6386154

C

T

intronic

De novo

-

-

Trost2022 G

ACOT7

2-0139-004

chr1:
6375840-6375840

G

A

intronic

De novo

-

-

Trost2022 G

ACOT7

DEASD_0088_001

chr1:
6420658-6420658

T

C

exonic

De novo

nonsynonymous SNV

NM_181865

c.A55G

p.R19G

5.983

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ACOT7

1-1167-003

chr1:
6327824-6327824

C

T

intronic

De novo

-

-

Trost2022 G

ACOT7

REACH000194

chr1:
6323889-6323889

C

T

downstream

De novo

-

-

Trost2022 G

ACOT7

MSSNG00040-004

chr1:
6339413-6339413

T

G

intronic

De novo

-

-

Trost2022 G

ACOT7

3-0607-000

chr1:
6338034-6338034

G

A

intronic

De novo

-

-

Trost2022 G

ACOT7

5-0083-003

chr1:
6435188-6435188

T

G

intronic

De novo

-

-

Trost2022 G

ACOT7

1-0443-003

chr1:
6339632-6339632

G

A

intronic

De novo

-

-

Yuen2016 G

ACOT7

SJD_34.3

chr1:
6390253-6390253

G

A

intronic

De novo

-

-

Trost2022 G

ACOT7

1-0090-003

chr1:
6387295-6387295

G

A

intronic

De novo

-

-

Trost2022 G

ACOT7

AU2089302

chr1:
6388945-6388945

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ACOT7

5-0091-003

chr1:
6414653-6414653

G

T

intronic

De novo

-

-

Trost2022 G

ACOT7

MSSNG00420-003

chr1:
6405693-6405693

C

G

intronic

De novo

-

-

Trost2022 G

Source Variant Information

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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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