Variant Results

or

Results for "ACOT11"

Variant Events: 14

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

ACOT11

NDAR_INVLT014TFN_wes1

chr1:
55060359-55060359

A

G

exonic

De novo

nonsynonymous SNV

NM_015547
NM_147161

c.A602G
c.A602G

p.Q201R
p.Q201R

13.01

-

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

ACOT11

AU066404

chr1:
55051667-55051667

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ACOT11

mAGRE6196

chr1:
55073674-55073674

A

AG

exonic

Paternal

frameshift insertion

NM_015547
NM_147161

c.1563dupG
c.1563dupG

p.E521fs
p.E521fs

-

Cirnigliaro2023 G

ACOT11

AU3875301

chr1:
55073674-55073674

A

AG

exonic

Paternal

frameshift insertion

NM_015547
NM_147161

c.1563dupG
c.1563dupG

p.E521fs
p.E521fs

-

Cirnigliaro2023 G

ACOT11

DEASD_1018_001

chr1:
55062979-55062979

C

T

exonic

De novo

nonsynonymous SNV

NM_015547
NM_147161

c.C655T
c.C655T

p.R219C
p.R219C

11.66

8.322E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ACOT11

5-0042-003

chr1:
55046916-55046916

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ACOT11

2-0270-003

chr1:
55024343-55024343

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ACOT11

Cukier2014:17342

chr1:
55050353-55050353

G

A

exonic

Unknown

nonsynonymous SNV

NM_015547
NM_147161

c.G59A
c.G59A

p.R20H
p.R20H

19.24

0.0187

Cukier2014 E

ACOT11

1-0448-003

chr1:
55014815-55014815

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ACOT11

1000482995765539-C

chr1:
55065092-55065092

A

G

intronic

De novo

-

Fu2022 E

ACOT11

SP0090965

chr1:
55070026-55070026

T

G

exonic

De novo

nonsynonymous SNV

NM_015547
NM_147161

c.T1160G
c.T1160G

p.L387R
p.L387R

20.5

-

Trost2022 G

ACOT11

AU4263304

chr1:
55060300-55060300

G

A

exonic

De novo

synonymous SNV

NM_015547
NM_147161

c.G543A
c.G543A

p.R181R
p.R181R

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ACOT11

7-0048-003

chr1:
55101020-55101020

C

T

downstream

De novo

-

Trost2022 G

ACOT11

MT_69.4

chr1:
55070280-55070280

C

T

intronic

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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