Variant Results

or

Results for "ACACB"

Variant Events: 25

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

ACACB

SP0042363

chr12:
109631424-109631424

G

A

intronic

De novo

-

Fu2022 E

ACACB

SP0032493

chr12:
109609582-109609582

C

G

intronic

De novo

-

Fu2022 E

ACACB

SP0104241

chr12:
109639562-109639562

C

T

intronic

De novo

-

Fu2022 E

ACACB

1-0346-004

chr12:
109671468-109671468

G

A

intronic

De novo

-

Yuen2017 G

ACACB

SP0035635

chr12:
109577236-109577236

G

A

exonic

De novo

nonsynonymous SNV

NM_001093

c.G26A

p.C9Y

13.53

2.482E-5

Fu2022 E

ACACB

SP0082648

chr12:
109675039-109675039

C

G

exonic

De novo

nonsynonymous SNV

NM_001093

c.C4516G

p.R1506G

23.2

-

Fu2022 E

ACACB

AU145A

chr12:
109644616-109644616

C

T

exonic

De novo

synonymous SNV

NM_001093

c.C3015T

p.N1005N

-

0.0365

DeRubeis2014 E
Kosmicki2017 E

ACACB

ASC_CA_204_A

chr12:
109683954-109683954

A

G

intronic

De novo

-

Satterstrom2020 E

ACACB

150653

chr12:
109684055-109684055

C

T

exonic

De novo

synonymous SNV

NM_001093

c.C5373T

p.I1791I

-

4.946E-5

Fu2022 E

ACACB

EGAN00001100988

chr12:
109704162-109704162

A

C

exonic

De novo

nonsynonymous SNV

NM_001093

c.A7372C

p.T2458P

16.56

2.597E-5

Fu2022 E

ACACB

14135_p1

chr12:
109677728-109677728

C

T

exonic

De novo

nonsynonymous SNV

NM_001093

c.C4756T

p.R1586C

26.5

4.946E-5

Fu2022 E

ACACB

14574.p1

chr12:
109625794-109625794

C

T

intronic

De novo

-

8.348E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ACACB

SSC07902

chr12:
109577549-109577549

A

AG

exonic

De novo

frameshift insertion

NM_001093

c.340dupG

p.P113fs

-

Fu2022 E

ACACB

14135.p1

chr12:
109677728-109677728

C

T

exonic

De novo

nonsynonymous SNV

NM_001093

c.C4756T

p.R1586C

26.5

4.946E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

ACACB

ASC_CA_179_A

chr12:
109614036-109614036

A

G

exonic

De novo

nonsynonymous SNV

NM_001093

c.A1405G

p.S469G

14.85

-

Fu2022 E
Satterstrom2020 E

ACACB

iHART2507

chr12:
109684020-109684020

C

T

exonic

Paternal

stopgain

NM_001093

c.C5338T

p.Q1780X

42.0

8.253E-6

Ruzzo2019 G

ACACB

iHART1991

chr12:
109629570-109629570

T

C

splicing

Maternal

splicing

19.35

8.266E-6

Ruzzo2019 G

ACACB

iHART3265

chr12:
109623546-109623546

G

C

splicing

Paternal

splicing

16.15

8.394E-6

Ruzzo2019 G

ACACB

iHART1212

chr12:
109660325-109660325

G

GC

exonic

Maternal

frameshift insertion

NM_001093

c.3579dupC

p.G1193fs

-

1.0E-4

Ruzzo2019 G

ACACB

13585.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001093
NM_001093

c.340dupG
c.340dupG

p.P113fs
p.E114fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

ACACB

7-0129-003

chr12:
109644596-109644596

G

A

exonic

De novo

nonsynonymous SNV

NM_001093

c.G2995A

p.V999I

11.33

2.0E-4

Yuen2017 G

ACACB

iHART2158

chr12:
109629751-109629751

G

T

exonic

Paternal

stopgain

NM_001093

c.G2395T

p.E799X

40.0

-

Ruzzo2019 G

ACACB

1-0757-003

chr12:
109643725-109643725

G

A

intronic

De novo

-

Yuen2017 G

ACACB

1-0935-003

chr12:
109644607-109644607

C

A

exonic

De novo

nonsynonymous SNV

NM_001093

c.C3006A

p.N1002K

2.441

-

Yuen2017 G

ACACB

7-0167-003

chr12:
109578380-109578380

T

G

intronic

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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