Variant Results

or

Results for "MAP3K13"

Variant Events: 28

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

MAP3K13

200675453@1082034446

chr3:
185198194-185198194

G

A

exonic

De novo

synonymous SNV

NM_001242317
NM_004721
NM_001242314

c.G2055A
c.G2676A
c.G2676A

p.T685T
p.T892T
p.T892T

-

8.237E-6

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP3K13

AU4231301

chr3:
185119196-185119196

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

A211503

chr3:
185146664-185146664

C

G

exonic

De novo

nonsynonymous SNV

NM_004721
NM_001242314

c.C295G
c.C295G

p.Q99E
p.Q99E

12.76

-

Fu2022 E

MAP3K13

1-0495-003

chr3:
185149741-185149758

ATCTCTCTCTCTCTCTCT

ATCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

MAP3K13

200675453_1082034446

chr3:
185198194-185198194

G

A

exonic

De novo

synonymous SNV

NM_001242317
NM_004721
NM_001242314

c.G2055A
c.G2676A
c.G2676A

p.T685T
p.T892T
p.T892T

-

8.237E-6

Fu2022 E

MAP3K13

AU4465303

chr3:
185203843-185203843

A

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

AU3808305

chr3:
185000628-185000628

C

A

upstream

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

REACH000065

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

MAP3K13

AU0786305

chr3:
185193651-185193658

AATACATA

AATACATACATA

intronic

De novo

-

Yuen2017 G

MAP3K13

1-0175-003

chr3:
185018448-185018448

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

mAGRE5273

chr3:
185181425-185181425

C

T

exonic

Paternal

stopgain

NM_001242317
NM_004721
NM_001242314

c.C745T
c.C1366T
c.C1366T

p.R249X
p.R456X
p.R456X

17.14

-

Cirnigliaro2023 G

MAP3K13

AU2320301

chr3:
185115058-185115058

T

A

intronic

De novo

-

Trost2022 G

MAP3K13

AU2224301

chr3:
185121706-185121706

T

A

intronic

De novo

-

Trost2022 G

MAP3K13

2-0144-004

chr3:
185190621-185190622

AC

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

2-1757-003

chr3:
185067498-185067498

C

T

intronic

De novo

-

Trost2022 G

MAP3K13

AU2215302

chr3:
185139169-185139169

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K13

MSSNG00438-003

chr3:
185078316-185078316

A

G

intronic

De novo

-

Trost2022 G

MAP3K13

MSSNG00364-003

chr3:
185043460-185043460

C

A

intronic

De novo

-

Trost2022 G

MAP3K13

MT_24.3

chr3:
185062892-185062892

C

A

intronic

De novo

-

Trost2022 G

MAP3K13

REACH000520

chr3:
185032867-185032867

A

G

intronic

De novo

-

Trost2022 G

MAP3K13

SJD_27.3

chr3:
185041997-185041997

G

A

intronic

De novo

-

Trost2022 G

MAP3K13

2-1433-004

chr3:
185204960-185204960

G

GT

UTR3

De novo

-

Trost2022 G

MAP3K13

MSSNG00341-004

chr3:
185205450-185205450

T

C

UTR3

De novo

-

Trost2022 G

MAP3K13

MSSNG00028-004

chr3:
185181944-185181944

A

C

intronic

De novo

-

Trost2022 G

MAP3K13

Chen2017:47

chr3:
185198194-185198194

G

A

exonic

De novo

synonymous SNV

NM_001242317
NM_004721
NM_001242314

c.G2055A
c.G2676A
c.G2676A

p.T685T
p.T892T
p.T892T

-

8.237E-6

Chen2017 E

MAP3K13

AU2320301

chr3:
185202238-185202238

G

A

UTR3

De novo

-

Trost2022 G

MAP3K13

SJD_75.3

chr3:
185131840-185131840

G

A

intronic

De novo

-

Trost2022 G

MAP3K13

SP0154395

chr3:
185161294-185161294

C

T

exonic

De novo

nonsynonymous SNV

NM_001242317
NM_004721
NM_001242314

c.C100T
c.C721T
c.C721T

p.L34F
p.L241F
p.L241F

34.0

-

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
	More