Variant Results

or

Results for "CRTAC1"

Variant Events: 32

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

CRTAC1

2-1366-003

chr10:
99654524-99654524

A

G

intronic

De novo

-

Yuen2017 G

CRTAC1

AU3761301

chr10:
99781724-99781724

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRTAC1

AU3782303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

CRTAC1

AU045512

chr10:
99849143-99849143

A

G

intergenic

De novo

-

Yuen2017 G

CRTAC1

AU045512

chr10:
99849447-99849447

G

T

intergenic

De novo

-

Yuen2017 G

CRTAC1

1-0269-003

chr10:
99636338-99636338

T

TCC

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRTAC1

2-0149-005

chr10:
99882157-99882157

G

A

intergenic

De novo

-

Yuen2017 G

CRTAC1

AU4032305

chr10:
99800481-99800481

C

T

intergenic

De novo

-

Yuen2017 G

CRTAC1

AU075308

chr10:
99655659-99655659

C

T

exonic

Unknown

nonsynonymous SNV

NM_001206528
NM_018058

c.G1300A
c.G1300A

p.V434I
p.V434I

15.84

2.0E-4

Chahrour2012 E

CRTAC1

08C74159

chr10:
99661390-99661390

C

T

exonic

De novo

nonsynonymous SNV

NM_001206528
NM_018058

c.G1003A
c.G1003A

p.A335T
p.A335T

24.0

1.656E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CRTAC1

1-0269-005

chr10:
99636338-99636338

T

TCC

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRTAC1

7-0199-003

chr10:
99669068-99669068

C

G

intronic

De novo

-

Trost2022 G

CRTAC1

AU075308

chr10:
99771030-99771030

C

T

exonic

Unknown

nonsynonymous SNV

NM_001206528
NM_018058

c.G89A
c.G89A

p.R30Q
p.R30Q

19.54

4.119E-5

Chahrour2012 E

CRTAC1

3-0305-000

chr10:
99686891-99686891

C

T

intronic

De novo

-

Trost2022 G

CRTAC1

5-0085-003

chr10:
99654687-99654687

C

T

intronic

De novo

-

Trost2022 G

CRTAC1

MSSNG00369-003

chr10:
99662660-99662660

G

A

intronic

De novo

-

Trost2022 G

CRTAC1

1-0654-003

chr10:
99652723-99652723

C

T

intronic

De novo

-

Trost2022 G

CRTAC1

MSSNG00208-003

chr10:
99759775-99759775

C

T

intronic

De novo

-

Trost2022 G

CRTAC1

1-0433-003

chr10:
99804050-99804050

A

AC

intergenic

De novo

-

Yuen2017 G

CRTAC1

2-0129-005

chr10:
99889540-99889540

T

C

intergenic

De novo

-

Yuen2017 G

CRTAC1

5-1008-003

chr10:
99750288-99750288

G

A

intronic

De novo

-

Trost2022 G

CRTAC1

2-1094-004

chr10:
99837312-99837312

A

G

intergenic

De novo

-

Yuen2017 G

CRTAC1

7-0405-004

chr10:
99752136-99752136

G

A

intronic

De novo

-

Trost2022 G

CRTAC1

MT_15.3

chr10:
99717035-99717035

G

A

intronic

De novo

-

Trost2022 G

CRTAC1

1-0559-005

chr10:
99675400-99675400

C

T

intronic

De novo

-

Yuen2017 G

CRTAC1

AU2318301

chr10:
99745560-99745560

C

G

intronic

De novo

-

Trost2022 G

CRTAC1

111308

chr10:
99625365-99625365

G

A

exonic

nonsynonymous SNV

NM_001010917

c.G412A

p.E138K

33.0

-

Woodbury-Smith2022 E

CRTAC1

1-0354-006

chr10:
99710080-99710081

TG

CT

intronic

De novo

-

Trost2022 G

CRTAC1

1-1123-003

chr10:
99713124-99713124

T

A

intronic

De novo

-

Trost2022 G

CRTAC1

2-0144-003

chr10:
99820208-99820212

ATAGT

A

intergenic

De novo

-

Yuen2017 G

CRTAC1

2-1302-003

chr10:
99716126-99716126

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CRTAC1

SP0086531

chr10:
99683231-99683231

A

C

intronic

De novo

-

Fu2022 E

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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