Variant Results

or

Results for "CARD11"

Variant Events: 38

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

CARD11

11572.p1

chr7:
2965364-2965364

G

C

intronic

De novo

-

Turner2016 G

CARD11

1-0385-003

chr7:
2959801-2959801

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CARD11

14637.p1

chr7:
2965364-2965364

G

C

intronic

De novo

-

Turner2016 G

CARD11

2-0003-003

chr7:
3159787-3159787

T

TCATTACCATCATCTTCATCATCACCACCCTCTTCAC

intergenic

De novo

-

Yuen2017 G

CARD11

SP0068632

chr7:
2979544-2979544

G

A

exonic

De novo

nonsynonymous SNV

NM_032415

c.C703T

p.R235W

14.58

4.124E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

CARD11

AU3617302

chr7:
2974046-2974046

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CARD11

SP0120666

chr7:
2958625-2958625

C

T

intronic

De novo

-

Trost2022 G

CARD11

SJD_74.3

chr7:
2979252-2979252

C

T

intronic

De novo

-

Trost2022 G

CARD11

1-0261-003

chr7:
3126077-3126077

C

T

intergenic

De novo

-

Yuen2017 G

CARD11

2-1723-003

chr7:
2948606-2948606

G

A

intronic

De novo

-

Trost2022 G

CARD11

1-0377-003

chr7:
3075398-3075398

C

T

intronic

De novo

-

Yuen2017 G

CARD11

Lim2017:5022

chr7:
2984055-2984055

G

C

exonic

De novo

nonsynonymous SNV

NM_032415

c.C475G

p.L159V

16.96

-

Lim2017 E

CARD11

4-0062-003

chr7:
3043925-3043927

CAG

GAC

intronic

De novo

-

Trost2022 G

CARD11

AM01ZF-04

chr7:
3081435-3081435

T

C

intronic

De novo

-

Trost2022 G

CARD11

2-1294-004

chr7:
3027200-3027200

G

A

intronic

De novo

-

Trost2022 G

CARD11

MSSNG00043-003

chr7:
3041486-3041486

C

T

intronic

De novo

-

Trost2022 G

CARD11

MSSNG00199-003

chr7:
3004114-3004114

A

G

intronic

De novo

-

Trost2022 G

CARD11

2-1743-004A

chr7:
3020507-3020507

G

A

intronic

De novo

-

Trost2022 G

CARD11

SJD_44.3

chr7:
2987988-2987988

A

AACC

intronic

De novo

-

Trost2022 G

CARD11

MSSNG00124-003

chr7:
2991714-2991714

C

T

intronic

De novo

-

Trost2022 G

CARD11

AU012803

chr7:
3168852-3168852

G

A

intergenic

De novo

-

Yuen2017 G

CARD11

2-1342-003

chr7:
2974946-2974946

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CARD11

AU4315302

chr7:
3123928-3123928

C

T

intergenic

De novo

-

Yuen2017 G

CARD11

MSSNG00391-003

chr7:
3084041-3084041

G

A

upstream

De novo

-

Trost2022 G

CARD11

2-1235-004

chr7:
3077346-3077346

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CARD11

1-0119-004

chr7:
3128880-3128880

C

T

intergenic

De novo

-

Yuen2017 G

CARD11

1-0458-004

chr7:
3159958-3159958

T

TC

intergenic

De novo

-

Yuen2017 G

CARD11

1-0025-006

chr7:
3159958-3159958

T

TC

intergenic

De novo

-

Yuen2017 G

CARD11

Lim2017:12108

chr7:
2951847-2951847

C

T

exonic

De novo

nonsynonymous SNV

NM_032415

c.G3103A

p.E1035K

19.89

-

Lim2017 E

CARD11

3-0431-000

chr7:
3013169-3013169

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CARD11

2-1356-003

chr7:
3019628-3019628

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CARD11

12108

chr7:
2951847-2951847

C

T

exonic

De novo

nonsynonymous SNV

NM_032415

c.G3103A

p.E1035K

19.89

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CARD11

AU021204

chr7:
2953977-2953977

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CARD11

AU021204

chr7:
3006262-3006262

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CARD11

SP0049517

chr7:
2968316-2968316

C

T

exonic

De novo

nonsynonymous SNV

NM_032415

c.G1670A

p.R557H

14.78

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CARD11

11572.p1

chr7:
2965360-2965360

A

G

intronic

De novo

-

Turner2016 G

CARD11

14637.p1

chr7:
2965360-2965360

A

G

intronic

De novo

-

Turner2016 G

CARD11

2-0022-005

chr7:
3111216-3111218

AAC

A

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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