Variant Results

or

Results for "MAP3K4"

Variant Events: 23

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

MAP3K4

REACH000073

chr6:
161485501-161485501

T

C

intronic

De novo

-

Trost2022 G

MAP3K4

1-0589-003

chr6:
161489920-161489920

C

G

intronic

De novo

-

Trost2022 G

MAP3K4

2-1659-003

chr6:
161463322-161463322

C

G

intronic

De novo

-

Trost2022 G

MAP3K4

AU1698302

chr6:
161505183-161505183

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

124-10-113043

chr6:
161470570-161470570

T

G

exonic

De novo

nonsynonymous SNV

NM_001301072
NM_005922
NM_006724

c.T1266G
c.T1266G
c.T1266G

p.I422M
p.I422M
p.I422M

15.23

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP3K4

5-5126-003

chr6:
161481222-161481227

ATTCAT

A

intronic

De novo

-

Trost2022 G

MAP3K4

SMHC01773s000

chr6:
161519314-161519314

C

T

exonic

De novo

nonsynonymous SNV

NM_001301072
NM_005922
NM_001291958

c.C3517T
c.C3529T
c.C1888T

p.R1173W
p.R1177W
p.R630W

17.57

8.371E-6

Yuan2023 E

MAP3K4

08C73637

chr6:
161412970-161412970

G

A

exonic

De novo

nonsynonymous SNV

NM_001301072
NM_005922
NM_006724

c.G7A
c.G7A
c.G7A

p.E3K
p.E3K
p.E3K

15.9

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAP3K4

111313

chr6:
161527642-161527642

T

C

exonic

nonsynonymous SNV

NM_006724
NM_001301072
NM_005922
NM_001291958

c.T3803C
c.T3941C
c.T3953C
c.T2312C

p.I1268T
p.I1314T
p.I1318T
p.I771T

24.4

1.648E-5

Woodbury-Smith2022 E

MAP3K4

AU2100302

chr6:
161486670-161486670

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

SP0053924

chr6:
161455396-161455407

CAGCACACCTCG

C

exonic

frameshift deletion

NM_001301072
NM_005922
NM_006724

c.259_269del
c.259_269del
c.259_269del

p.S87fs
p.S87fs
p.S87fs

-

Antaki2022 GE
Zhou2022 GE

MAP3K4

REACH000454

chr6:
161500563-161500563

C

G

intronic

De novo

-

Trost2022 G

MAP3K4

7-0240-005

chr6:
161510171-161510171

C

T

intronic

De novo

-

Trost2022 G

MAP3K4

AU1952305

chr6:
161452591-161452591

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

5-0138-003

chr6:
161447462-161447462

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

Cukier2014:17342

chr6:
161470544-161470544

T

G

exonic

Unknown

nonsynonymous SNV

NM_001301072
NM_005922
NM_006724

c.T1240G
c.T1240G
c.T1240G

p.L414V
p.L414V
p.L414V

18.07

5.769E-5

Cukier2014 E

MAP3K4

Cukier2014:17342

chr6:
161508880-161508880

A

C

exonic

Unknown

nonsynonymous SNV

NM_001301072
NM_005922
NM_006724
NM_001291958

c.A2717C
c.A2717C
c.A2717C
c.A1076C

p.H906P
p.H906P
p.H906P
p.H359P

13.59

0.0235

Cukier2014 E

MAP3K4

14643.p1

chr6:
161470213-161470213

C

T

exonic

Mosaic

synonymous SNV

NM_001301072
NM_005922
NM_006724

c.C909T
c.C909T
c.C909T

p.V303V
p.V303V
p.V303V

-

8.304E-6

Dou2017 E

MAP3K4

NDAR_INVXN358VG7_wes1

chr6:
161527770-161527770

G

A

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

MAP3K4

AU3645301

chr6:
161471383-161471383

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

7-0143-003

chr6:
161518612-161518612

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

AU0786305

chr6:
161413428-161413428

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAP3K4

2-1328-003

chr6:
161447457-161447457

G

A

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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