Variant Results

or

Results for "MAPK3"

Variant Events: 12

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

MAPK3

Schaaf2011:34

chr16:
30128063-30128063

G

A

exonic

Unknown

nonsynonymous SNV

NM_001109891
NM_002746

c.C934T
c.C1066T

p.P312S
p.P356S

13.89

1.659E-5

Schaaf2011 T

MAPK3

Schaaf2011:35

chr16:
30133167-30133167

T

G

exonic

Unknown

nonsynonymous SNV

NM_001040056
NM_001109891
NM_002746

c.A331C
c.A331C
c.A331C

p.T111P
p.T111P
p.T111P

18.71

-

Schaaf2011 T

MAPK3

TRE_825

chr16:
30133155-30133155

T

C

exonic

De novo

nonsynonymous SNV

NM_001040056
NM_001109891
NM_002746

c.A343G
c.A343G
c.A343G

p.M115V
p.M115V
p.M115V

17.52

-

Fu2022 E

MAPK3

Leuven2_60234013

chr16:
30129792-30129792

C

T

exonic

De novo

nonsynonymous SNV

NM_001040056
NM_001109891
NM_002746

c.G421A
c.G421A
c.G421A

p.D141N
p.D141N
p.D141N

36.0

-

Wang2020 T

MAPK3

AU4465303

chr16:
30156454-30156462

ATATATTAT

ATAT

intergenic

De novo

-

Yuen2017 G

MAPK3

SanDiego_U8G3V

chr16:
30129852-30129852

C

T

exonic

Maternal

nonsynonymous SNV

NM_001040056
NM_001109891
NM_002746

c.G361A
c.G361A
c.G361A

p.V121M
p.V121M
p.V121M

29.9

-

Wang2020 T

MAPK3

Iowa_197_3_a.2.1

chr16:
30127990-30127990

T

C

exonic

Unknown

stoploss

NM_001109891
NM_002746

c.A1007G
c.A1139G

p.X336W
p.X380W

11.31

8.395E-6

Wang2020 T

MAPK3

SanDiego_E9R8H

chr16:
30133308-30133308

G

A

exonic

Unknown

nonsynonymous SNV

NM_001040056
NM_001109891
NM_002746

c.C190T
c.C190T
c.C190T

p.R64C
p.R64C
p.R64C

28.5

-

Wang2020 T

MAPK3

AU2089302

chr16:
30189163-30189163

G

A

intergenic

De novo

-

Yuen2017 G

MAPK3

AC01-0069-01

chr16:
30128162-30128162

G

A

exonic

De novo

nonsynonymous SNV

NM_001040056

c.C1070T

p.T357M

5.119

1.678E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MAPK3

Iowa_197_1_a.2.1

chr16:
30127990-30127990

T

C

exonic

Unknown

stoploss

NM_001109891
NM_002746

c.A1007G
c.A1139G

p.X336W
p.X380W

11.31

8.395E-6

Wang2020 T

MAPK3

09C82566

chr16:
30128549-30128549

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_001040056
NM_002746

c.G833A
c.G833A

p.R278Q
p.R278Q

36.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

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
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