Variant Results

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or

Results for "MAP2K4"

Variant Events: 24

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

MAP2K4

1-0467-003

chr17:
11948359-11948359

A

G

intronic

De novo

-

-

Yuen2017 G

MAP2K4

2-1460-003

chr17:
12396482-12396482

C

T

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

1-0906-003

chr17:
12347076-12347076

A

T

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

2-1425-003

chr17:
12019075-12019075

A

G

intronic

De novo

-

-

Yuen2017 G

MAP2K4

AU3911301

chr17:
12177774-12177775

CT

C

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

1-0901-003

chr17:
12344273-12344273

A

G

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

JASD_Fam0020

chr17:
11924221-11924221

G

A

exonic

De novo

synonymous SNV

NM_001281435
NM_003010

c.G18A
c.G18A

p.P6P
p.P6P

-

-

Takata2018 E

MAP2K4

JASD_Fam0020

chr17:
11924235-11924235

G

A

exonic

De novo

nonsynonymous SNV

NM_001281435
NM_003010

c.G32A
c.G32A

p.G11D
p.G11D

12.2

-

Takata2018 E

MAP2K4

1-0321-004

chr17:
12011444-12011444

A

G

intronic

De novo

-

-

Yuen2017 G

MAP2K4

1-0629-003

chr17:
12206888-12206903

TTGTGTGTGTGTGTGT

TTGTGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

JASD_Fam0020

chr17:
11924226-11924226

G

A

exonic

De novo

nonsynonymous SNV

NM_001281435
NM_003010

c.G23A
c.G23A

p.G8D
p.G8D

12.08

-

Takata2018 E

MAP2K4

AU3951302

chr17:
12047429-12047429

C

T

downstream

De novo

-

-

Yuen2017 G

MAP2K4

AU4153301

chr17:
12015224-12015224

C

T

intronic

De novo

-

-

Yuen2017 G

MAP2K4

AU4473301

chr17:
12020005-12020005

T

C

intronic

De novo

-

-

Yuen2017 G

MAP2K4

AU073005

chr17:
12157941-12157941

A

G

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

AU4013301

chr17:
11952555-11952555

C

T

intronic

De novo

-

-

Yuen2017 G

MAP2K4

2-1427-003

chr17:
12133807-12133807

G

C

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

13825.p1

chr17:
11999174-11999174

T

G

intronic

De novo

-

-

Werling2018 G

MAP2K4

AU025704

chr17:
12019182-12019182

G

A

intronic

De novo

-

-

Yuen2017 G

MAP2K4

3-0456-000B

chr17:
12209393-12209393

T

G

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

1-0051-005

chr17:
12034416-12034416

T

G

intronic

De novo

-

-

Yuen2017 G

MAP2K4

1-1004-003

chr17:
12113752-12113768

TCTCCTCCTCCTCCTCC

TCTCCTCCTCCTCC

intergenic

De novo

-

-

Yuen2017 G

MAP2K4

2-1166-003

chr17:
12062101-12062101

T

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

MAP2K4

AU2458302

chr17:
11975610-11975610

A

G

intronic

De novo

-

-

Yuen2017 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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