Variant Results

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Results for "MAP3K1"

Variant Events: 19

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

MAP3K1

111313

chr5:
56160717-56160717

G

A

exonic

nonsynonymous SNV

NM_005921

c.G991A

p.G331R

29.2

-

Woodbury-Smith2022 E

MAP3K1

M15079

chr5:
56174918-56174918

G

A

exonic

Maternal

nonsynonymous SNV

NM_005921

c.G2077A

p.D693N

32.0

-

Guo2018 T
Wang2016 T

MAP3K1

2-0007-003

chr5:
56129091-56129091

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K1

M12474

chr5:
56152428-56152428

C

T

exonic

Unknown

nonsynonymous SNV

NM_005921

c.C484T

p.R162C

36.0

Guo2018 T
Wang2016 T

MAP3K1

Cukier2014:7637

chr5:
56155672-56155672

A

G

exonic

Unknown

nonsynonymous SNV

NM_005921

c.A764G

p.N255S

13.57

Cukier2014 E

MAP3K1

M08973

chr5:
56170973-56170973

G

A

exonic

Unknown

nonsynonymous SNV

NM_005921

c.G1801A

p.E601K

36.0

Guo2018 T
Wang2016 T

MAP3K1

SP0010593

chr5:
56168655-56168655

C

T

exonic

De novo

synonymous SNV

NM_005921

c.C1509T

p.H503H

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MAP3K1

M20294

Complex Event; expand row to view variants

Maternal

frameshift insertion, frameshift deletion

NM_005921
NM_005921

c.1369dupA
c.1368_1369del

p.L456fs
p.L456fs

-

-

Guo2018 T
Stessman2017 T
Wang2016 T

MAP3K1

M23809

chr5:
56155686-56155686

C

T

exonic

Unknown

nonsynonymous SNV

NM_005921

c.C778T

p.R260C

20.1

Stessman2017 T

MAP3K1

AU2139301

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

MAP3K1

2-1795-003

chr5:
56189361-56189361

G

T

exonic

De novo

nonsynonymous SNV

NM_005921

c.G4393T

p.A1465S

25.6

-

Trost2022 G
Zhou2022 GE

MAP3K1

7-0469-003

chr5:
56166134-56166134

A

G

intronic

De novo

-

-

Trost2022 G

MAP3K1

1-0092-003

chr5:
56201569-56201573

GAGTC

G

intergenic

De novo

-

-

Yuen2017 G

MAP3K1

2-1529-003

chr5:
56196015-56196015

G

A

intergenic

De novo

-

-

Yuen2017 G

MAP3K1

AU071804

chr5:
56137525-56137525

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K1

7-0233-004

chr5:
56157571-56157575

CAAAG

C

intronic

De novo

-

-

Trost2022 G

MAP3K1

M19767

chr5:
56176602-56176602

G

A

exonic

Paternal

nonsynonymous SNV

NM_005921

c.G2152A

p.A718T

35.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

MAP3K1

2-1223-003

chr5:
56147677-56147677

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP3K1

108990-100

chr5:
56177585-56177585

G

A

exonic

Unknown

nonsynonymous SNV

NM_005921

c.G2558A

p.R853H

23.3

Stessman2017 T

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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