Variant Results

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or

Results for "MAP3K5"

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

MAP3K5

SP0059512

chr6:
136922928-136922928

G

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

MAP3K5

SP0036848

chr6:
137019671-137019671

C

T

exonic

De novo

synonymous SNV

NM_005923

c.G762A

p.V254V

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAP3K5

1-0665-003

chr6:
137022388-137022388

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K5

09C80916

chr6:
137015461-137015462

AC

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

MAP3K5

1-0049-004

chr6:
136993956-136993956

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K5

AU046707

chr6:
137107591-137107591

T

C

intronic

De novo

-

-

Yuen2017 G

MAP3K5

36766

chr6:
137015334-137015334

A

G

exonic

De novo

synonymous SNV

NM_005923

c.T1197C

p.D399D

-

-

Fu2022 E
Trost2022 G

MAP3K5

2-1314-003

chr6:
137067636-137067636

G

A

intronic

De novo

-

-

Yuen2016 G

MAP3K5

REACH000605

chr6:
137026737-137026737

C

T

intronic

De novo

-

-

Trost2022 G

MAP3K5

2-1709-003

chr6:
137059218-137059218

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K5

Bruno2021:XIX

chr6:
136944071-136944071

C

A

exonic

De novo

nonsynonymous SNV

NM_005923

c.G2065T

p.G689C

32.0

-

Bruno2021 E

MAP3K5

3-0647-000

chr6:
137030842-137030842

T

A

intronic

De novo

-

-

Trost2022 G

MAP3K5

MSSNG00227-003

chr6:
137004778-137004778

A

AT

intronic

De novo

-

-

Trost2022 G

MAP3K5

MSSNG00014-004

chr6:
136913637-136913637

G

C

exonic

De novo

nonsynonymous SNV

NM_005923

c.C2994G

p.F998L

13.23

-

Trost2022 G

MAP3K5

14519.p1

chr6:
137015334-137015334

A

G

exonic

De novo

synonymous SNV

NM_005923

c.T1197C

p.D399D

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

MAP3K5

7-0250-003A

chr6:
136936842-136936842

G

C

intronic

De novo

-

-

Trost2022 G

MAP3K5

1-0236-004

chr6:
136884663-136884664

GC

TT

intronic

De novo

-

-

Trost2022 G

MAP3K5

7-0250-003

chr6:
136936842-136936842

G

C

intronic

De novo

-

-

Yuen2017 G

MAP3K5

MSSNG00002-004

chr6:
137092929-137092929

C

A

intronic

De novo

-

-

Trost2022 G

MAP3K5

2-1182-003

chr6:
136995636-136995636

T

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

MAP3K5

5-5130-004

chr6:
137040270-137040270

C

T

intronic

De novo

-

-

Trost2022 G

MAP3K5

2-0109-003

chr6:
137049594-137049597

AAAT

G

intronic

De novo

-

-

Trost2022 G

MAP3K5

1-0675-003

chr6:
136983092-136983092

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K5

AU3874302

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K5

Lim2017:36766

chr6:
137015334-137015334

A

G

exonic

De novo

synonymous SNV

NM_005923

c.T1197C

p.D399D

-

-

Lim2017 E

MAP3K5

AU3725302

chr6:
136909884-136909884

C

T

intronic

De novo

-

-

Trost2022 G
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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