Variant Results

or

Results for "MAP4"

Variant Events: 32

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

MAP4

PN400178

chr3:
47933504-47933504

G

A

intronic

Unknown

36.0

-

Leblond2019 E

MAP4

SP0025562

chr3:
48014784-48014784

G

C

UTR3

De novo

-

Fu2022 E

MAP4

SP0114472

chr3:
47908750-47908750

G

A

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.C3052T
c.C3052T

p.P1018S
p.P1018S

24.5

-

Fu2022 E

MAP4

PN400386

chr3:
47933504-47933504

G

A

intronic

Unknown

36.0

-

Leblond2019 E

MAP4

PN400455

chr3:
47933504-47933504

G

A

intronic

Unknown

36.0

-

Leblond2019 E

MAP4

2-1719-003

chr3:
48074997-48075008

TTGAAGTGAAGT

TTGAAGT

intronic

De novo

-

Yuen2017 G

MAP4

2-1644-003

chr3:
48000678-48000678

G

A

intronic

De novo

-

Yuen2017 G

MAP4

AU3698301

chr3:
47912800-47912800

A

G

intronic

De novo

-

8.247E-6

Yuen2017 G

MAP4

11842.p1

chr3:
47918907-47918907

C

T

exonic

Mosaic

synonymous SNV

NM_001134364
NM_002375

c.G2106A
c.G2106A

p.K702K
p.K702K

14.09

-

Krupp2017 E

MAP4

2-1456-004

chr3:
47964033-47964037

AAGAC

A

intronic

De novo

-

Yuen2017 G

MAP4

Lim2017:4890

chr3:
47969769-47969769

C

A

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.G364T
c.G364T

p.D122Y
p.D122Y

13.89

-

Lim2017 E

MAP4

AU4186302

chr3:
48166474-48166474

C

T

intergenic

De novo

-

Yuen2017 G

MAP4

14496.p1

chr3:
48024445-48024445

T

G

intronic

De novo

-

Turner2016 G

MAP4

7-0024-005

chr3:
47996165-47996165

A

G

intronic

De novo

-

Yuen2017 G

MAP4

AU059903

chr3:
47977332-47977332

G

T

intronic

De novo

-

Yuen2017 G

MAP4

A19

chr3:
48143560-48143560

G

A

intergenic

De novo

-

Wu2018 G

MAP4

14496.p1

chr3:
47899083-47899083

T

G

intronic

De novo

-

Turner2016 G

MAP4

2-0090-003

chr3:
48079351-48079351

G

C

intronic

De novo

-

Yuen2017 G

MAP4

08C73330

chr3:
47953165-47953165

T

G

intronic

De novo

12.79

-

Fu2022 E

MAP4

2-1272-003

chr3:
47957453-47957453

T

C

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.A1864G
c.A1864G

p.M622V
p.M622V

1.269

-

Jiang2013 G
Yuen2016 G

MAP4

7-0095-003

chr3:
47973545-47973545

C

T

intronic

De novo

-

Yuen2017 G

MAP4

PN400190

chr3:
47933504-47933504

G

A

intronic

Unknown

36.0

-

Leblond2019 E

MAP4

2-1300-003

chr3:
47972018-47972018

A

T

intronic

De novo

-

Yuen2016 G

MAP4

4890

chr3:
47969769-47969769

C

A

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.G364T
c.G364T

p.D122Y
p.D122Y

13.89

-

Fu2022 E

MAP4

08C74627

chr3:
48028831-48028831

C

T

intronic

De novo

-

Satterstrom2020 E

MAP4

1-0531-003

chr3:
48189939-48189939

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

MAP4

13822.p1

chr3:
47969769-47969769

C

A

exonic

De novo

nonsynonymous SNV

NM_001134364
NM_002375

c.G364T
c.G364T

p.D122Y
p.D122Y

13.89

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

MAP4

AU005213

chr3:
47972138-47972138

G

A

intronic

De novo

-

Yuen2017 G

MAP4

1-0965-003

chr3:
48191255-48191255

C

T

intergenic

De novo

-

Yuen2017 G

MAP4

3-0391-000

chr3:
48023582-48023582

C

A

intronic

De novo

-

Yuen2017 G

MAP4

AU031403

chr3:
47973812-47973812

C

A

intronic

De novo

-

Yuen2017 G

MAP4

14518.p1

chr3:
47963210-47963210

T

A

intronic

De novo

-

5.086E-5

Satterstrom2020 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
	More