Variant Results

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or

Results for "MAP4K3"

Variant Events: 24

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

MAP4K3

AU045512

chr2:
39564375-39564375

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

4-0095-003

chr2:
39557169-39557174

ATTAAT

A

intronic

De novo

-

-

Trost2022 G

MAP4K3

MSSNG00339-004

chr2:
39545497-39545501

GAACC

G

intronic

De novo

-

-

Trost2022 G

MAP4K3

AU3852301

chr2:
39632047-39632047

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

7-0320-003

chr2:
39570512-39570512

T

C

intronic

De novo

-

-

Trost2022 G

MAP4K3

MSSNG00021-004

chr2:
39561729-39561729

T

C

intronic

De novo

-

-

Trost2022 G

MAP4K3

2-0198-005

chr2:
39586409-39586409

C

G

intronic

De novo

-

-

Yuen2017 G

MAP4K3

REACH000727

chr2:
39512281-39512281

C

A

intronic

De novo

-

-

Trost2022 G

MAP4K3

2-0198-004

chr2:
39586409-39586409

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

MSSNG00346-004

chr2:
39526094-39526094

A

T

intronic

De novo

-

-

Trost2022 G

MAP4K3

AU045512

chr2:
39559343-39559343

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

SJD_54.3

chr2:
39520041-39520041

C

T

intronic

De novo

-

-

Trost2022 G

MAP4K3

AU2777302

chr2:
39553379-39553380

AC

A

exonic

Paternal

frameshift deletion

NM_001270425
NM_003618

c.569delG
c.569delG

p.G190fs
p.G190fs

-

-

Cirnigliaro2023 G

MAP4K3

2-1505-004

chr2:
39476004-39476004

A

G

downstream

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

B5X9C-01

chr2:
39652004-39652004

C

A

intronic

De novo

-

-

Trost2022 G

MAP4K3

AU3636302

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

2-1784-003

chr2:
39601482-39601482

C

T

intronic

De novo

-

-

Trost2022 G

MAP4K3

7-0427-003

chr2:
39577894-39577894

C

G

intronic

De novo

-

-

Trost2022 G

MAP4K3

5-0022-003

chr2:
39643479-39643479

G

C

intronic

De novo

-

-

Trost2022 G

MAP4K3

2-1142-003

chr2:
39490851-39490851

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

MT_179.3

chr2:
39612364-39612364

T

C

intronic

De novo

-

-

Trost2022 G

MAP4K3

AU2793302

chr2:
39482721-39482721

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MAP4K3

2-0043-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

MAP4K3

14343.p1

chr2:
39536651-39536651

A

C

exonic

De novo

nonsynonymous SNV

NM_001270425
NM_003618

c.T1007G
c.T1007G

p.V336G
p.V336G

19.33

-

Lim2017 E

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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