Variant Results

or

Results for "MAPK8IP3"

Variant Events: 26

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

MAPK8IP3

mAGRE1829

chr16:
1818703-1818720

GGAGACGGAGAGGACGAC

G

exonic

Paternal

frameshift deletion

NM_001040439
NM_015133

c.3872_3888del
c.3890_3906del

p.G1291fs
p.G1297fs

-

Cirnigliaro2023 G

MAPK8IP3

2-1345-003

chr16:
1785107-1785107

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MAPK8IP3

19993-31610

chr16:
1793424-1793424

G

A

exonic

Inherited

nonsynonymous SNV

NM_001040439
NM_015133

c.G691A
c.G691A

p.D231N
p.D231N

25.9

-

Callaghan2019 G

MAPK8IP3

MSSNG00013-004

chr16:
1818355-1818355

G

A

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.G3697A
c.G3715A

p.V1233M
p.V1239M

16.42

-

Trost2022 G

MAPK8IP3

2-1168-003

chr16:
1787508-1787513

CGTGTG

CGTG

intronic

De novo

-

Yuen2017 G

MAPK8IP3

1-0644-003

chr16:
1783315-1783315

C

T

intronic

De novo

-

Trost2022 G

MAPK8IP3

SP0004546

chr16:
1816937-1816937

C

T

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.C3032T
c.C3050T

p.A1011V
p.A1017V

24.7

8.968E-6

Trost2022 G

MAPK8IP3

2-0270-003

chr16:
1777679-1777679

T

A

intronic

De novo

-

Trost2022 G

MAPK8IP3

Wang2023:736

chr16:
1793474-1793474

C

A

exonic

De novo

stopgain

NM_001040439
NM_015133

c.C741A
c.C741A

p.Y247X
p.Y247X

39.0

-

Wang2023 E

MAPK8IP3

7-0024-005

chr16:
1765033-1765033

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAPK8IP3

Lim2017:70371

chr16:
1756621-1756621

A

G

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.A281G
c.A281G

p.Y94C
p.Y94C

16.3

-

Lim2017 E

MAPK8IP3

A2

chr16:
1766513-1766513

G

A

intronic

De novo

-

Wu2018 G

MAPK8IP3

1-0494-003A

chr16:
1777002-1777004

CTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAPK8IP3

SP0087329

chr16:
1774582-1774582

C

G

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.C343G
c.C343G

p.L115V
p.L115V

9.459

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAPK8IP3

TRE_2399

chr16:
1774638-1774638

G

A

exonic

De novo

synonymous SNV

NM_001040439
NM_015133

c.G399A
c.G399A

p.T133T
p.T133T

-

1.675E-5

Fu2022 E

MAPK8IP3

SP0054541

chr16:
1817703-1817703

G

A

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.G3355A
c.G3373A

p.V1119M
p.V1125M

21.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAPK8IP3

1-0460-003

chr16:
1803109-1803109

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

MAPK8IP3

SP0071025

chr16:
1814512-1814512

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

MAPK8IP3

iHART1829

chr16:
1818703-1818720

GGAGACGGAGAGGACGAC

G

exonic

Paternal

frameshift deletion

NM_001040439
NM_015133

c.3872_3888del
c.3890_3906del

p.G1291fs
p.G1297fs

-

Ruzzo2019 G

MAPK8IP3

70371

chr16:
1756621-1756621

A

G

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.A281G
c.A281G

p.Y94C
p.Y94C

16.3

-

Fu2022 E
Trost2022 G

MAPK8IP3

AU3787302

chr16:
1797726-1797726

T

C

intronic

De novo

-

Yuen2017 G

MAPK8IP3

SP0062584

chr16:
1818621-1818621

C

T

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.C3865T
c.C3883T

p.R1289C
p.R1295C

21.0

1.618E-5

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

MAPK8IP3

1-0971-003

chr16:
1812887-1812887

C

T

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.C1757T
c.C1775T

p.P586L
p.P592L

16.79

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

MAPK8IP3

1-0139-003

chr16:
1793180-1793180

C

G

intronic

De novo

-

Yuen2017 G

MAPK8IP3

7-0292-003A

chr16:
1808983-1808983

C

T

exonic

De novo

synonymous SNV

NM_015133

c.C1230T

p.R410R

-

1.665E-5

Trost2022 G
Zhou2022 GE

MAPK8IP3

13525.p1

chr16:
1756621-1756621

A

G

exonic

De novo

nonsynonymous SNV

NM_001040439
NM_015133

c.A281G
c.A281G

p.Y94C
p.Y94C

16.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
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
Curation notes	View
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