Variant Results

or

or

Results for "JAKMIP1"

Variant Events: 18

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

JAKMIP1

1-0560-003

chr4:
6192608-6192608

A

G

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

SSC07859

chr4:
6064158-6064158

G

A

exonic

stopgain

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.C946T
c.C1441T
c.C1441T
c.C1441T

p.R316X
p.R481X
p.R481X
p.R481X

28.2

-

Antaki2022 GE

JAKMIP1

2-1166-003

chr4:
6096321-6096321

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

JAKMIP1

13697.p1

chr4:
6064158-6064158

G

A

exonic

De novo

stopgain

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.C946T
c.C1441T
c.C1441T
c.C1441T

p.R316X
p.R481X
p.R481X
p.R481X

28.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

JAKMIP1

2-0003-003

chr4:
6039963-6039963

C

T

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

AU2089302

chr4:
6126959-6126959

C

T

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

SP0146669

chr4:
6087152-6087152

C

T

exonic

De novo

nonsynonymous SNV

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.G334A
c.G829A
c.G829A
c.G829A

p.V112I
p.V277I
p.V277I
p.V277I

2.925

Fu2022 E

JAKMIP1

2-1353-003

chr4:
6149885-6149885

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

JAKMIP1

2-1363-003

chr4:
6074782-6074782

G

T

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

05HI3870A

chr4:
6114525-6114525

G

A

exonic

De novo

nonsynonymous SNV

NM_001099433
NM_001306133
NM_001306134
NM_144720

c.C53T
c.C53T
c.C53T
c.C53T

p.A18V
p.A18V
p.A18V
p.A18V

16.28

Fu2022 E
Satterstrom2020 E

JAKMIP1

2-0145-004

chr4:
6131210-6131210

T

C

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

SP0061541

chr4:
6055451-6055451

T

C

intronic

De novo

-

-

Fu2022 E

JAKMIP1

12607.p1

chr4:
6064121-6064121

C

T

exonic

De novo

nonsynonymous SNV

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.G983A
c.G1478A
c.G1478A
c.G1478A

p.R328Q
p.R493Q
p.R493Q
p.R493Q

16.24

Ji2016 E
Krumm2015 E

JAKMIP1

09C95778

chr4:
6066639-6066639

T

G

exonic

De novo

nonsynonymous SNV

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.A904C
c.A1399C
c.A1399C
c.A1399C

p.T302P
p.T467P
p.T467P
p.T467P

20.4

-

Lim2017 E

JAKMIP1

AU039305

chr4:
6140407-6140407

C

T

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

13697_p1

chr4:
6064158-6064158

G

A

exonic

De novo

stopgain

NM_001306134
NM_001099433
NM_001306133
NM_144720

c.C946T
c.C1441T
c.C1441T
c.C1441T

p.R316X
p.R481X
p.R481X
p.R481X

28.2

-

Fu2022 E

JAKMIP1

1-0736-003

chr4:
6179359-6179359

A

C

intronic

De novo

-

-

Yuen2017 G

JAKMIP1

AU021204

chr4:
6184411-6184411

C

T

intronic

De novo

-

-

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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