Variant Results

or

Results for "TJP2"

Variant Events: 25

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

TJP2

Li2017:19770

chr9:
71845071-71845071

G

A

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G1606A
c.G1687A
c.G1594A
c.G1594A
c.G1594A
c.G1525A

p.G536R
p.G563R
p.G532R
p.G532R
p.G532R
p.G509R

34.0

1.648E-5

Li2017 T

TJP2

AU060403

chr9:
71852772-71852773

AT

A

intronic

De novo

-

Yuen2017 G

TJP2

Li2017:16180

chr9:
71835819-71835819

G

A

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G371A
c.G452A
c.G359A
c.G359A
c.G359A
c.G290A

p.R124Q
p.R151Q
p.R120Q
p.R120Q
p.R120Q
p.R97Q

25.1

-

Li2017 T

TJP2

Li2017:18917

chr9:
71867758-71867759

AT

A

exonic

Unknown

frameshift deletion

NM_201629
NM_001170414
NM_001170415
NM_001170416
NM_004817

c.2909delT
c.2840delT
c.3251delT
c.3443delT
c.3350delT

p.I970fs
p.I947fs
p.I1084fs
p.I1148fs
p.I1117fs

-

Li2017 T

TJP2

2-1341-004

chr9:
71866313-71866313

G

GAGTTTTAAATA

intronic

De novo

-

Yuen2017 G

TJP2

Li2017:20997

chr9:
71831282-71831282

G

C

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G154C
c.G235C
c.G142C
c.G142C
c.G142C
c.G73C

p.V52L
p.V79L
p.V48L
p.V48L
p.V48L
p.V25L

35.0

-

Li2017 T

TJP2

Li2017:33

chr9:
71867758-71867759

AT

A

exonic

Unknown

frameshift deletion

NM_201629
NM_001170414
NM_001170415
NM_001170416
NM_004817

c.2909delT
c.2840delT
c.3251delT
c.3443delT
c.3350delT

p.I970fs
p.I947fs
p.I1084fs
p.I1148fs
p.I1117fs

-

Li2017 T

TJP2

2-1183-003

chr9:
71761631-71761631

T

C

intronic

De novo

-

Yuen2017 G

TJP2

Li2017:16274

chr9:
71833199-71833199

A

G

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.A278G
c.A359G
c.A266G
c.A266G
c.A266G
c.A197G

p.N93S
p.N120S
p.N89S
p.N89S
p.N89S
p.N66S

28.0

-

Li2017 T

TJP2

Li2017:23720

chr9:
71849443-71849443

T

C

exonic

De novo

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.T1772C
c.T1853C
c.T1760C
c.T1760C
c.T1760C
c.T1691C

p.L591S
p.L618S
p.L587S
p.L587S
p.L587S
p.L564S

26.3

-

Li2017 T

TJP2

MT_28

chr9:
71863039-71863039

G

A

exonic

Paternal

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G2791A
c.G2872A
c.G2779A
c.G2779A
c.G2779A
c.G2710A

p.G931S
p.G958S
p.G927S
p.G927S
p.G927S
p.G904S

35.0

-

Toma2013 E

TJP2

Li2017:23742

chr9:
71851918-71851918

G

A

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G2057A
c.G2138A
c.G2045A
c.G2045A
c.G2045A
c.G1976A

p.R686Q
p.R713Q
p.R682Q
p.R682Q
p.R682Q
p.R659Q

36.0

1.647E-5

Li2017 T

TJP2

2-1477-003

chr9:
71863385-71863385

C

T

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

TJP2

2-0081-003

chr9:
71743684-71743684

C

T

intronic

De novo

-

Yuen2017 G

TJP2

2-1213-003

chr9:
71856751-71856751

C

A

intronic

De novo

-

Yuen2017 G

TJP2

AU1448301

chr9:
71824396-71824396

G

A

intronic

De novo

-

Yuen2017 G

TJP2

13665.p1

chr9:
71853630-71853630

G

A

exonic

De novo

synonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.G2292A
c.G2373A
c.G2280A
c.G2280A
c.G2280A
c.G2211A

p.T764T
p.T791T
p.T760T
p.T760T
p.T760T
p.T737T

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

TJP2

Li2017:23127

chr9:
71861618-71861618

T

C

exonic

Unknown

nonsynonymous SNV

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.T2591C
c.T2672C
c.T2579C
c.T2579C
c.T2579C
c.T2510C

p.L864P
p.L891P
p.L860P
p.L860P
p.L860P
p.L837P

25.0

-

Li2017 T

TJP2

A23

chr9:
71850955-71850955

A

AA

exonic

De novo

frameshift insertion

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.1804dupA
c.1885dupA
c.1792dupA
c.1792dupA
c.1792dupA
c.1723dupA

p.I602fs
p.I629fs
p.I598fs
p.I598fs
p.I598fs
p.I575fs

-

Wu2018 G

TJP2

A21

chr9:
71867758-71867759

AT

A

exonic

De novo

frameshift deletion

NM_201629
NM_001170414
NM_001170415
NM_001170416
NM_004817

c.2909delT
c.2840delT
c.3251delT
c.3443delT
c.3350delT

p.I970fs
p.I947fs
p.I1084fs
p.I1148fs
p.I1117fs

-

Wu2018 G

TJP2

AU038203

chr9:
71831803-71831803

G

C

intronic

De novo

-

Yuen2017 G

TJP2

1-0144-004

chr9:
71832023-71832023

C

T

intronic

De novo

-

Yuen2017 G

TJP2

AU3154302

chr9:
71821237-71821237

C

T

intronic

De novo

-

Yuen2017 G

TJP2

2-1735-003

chr9:
71770367-71770367

G

A

intronic

De novo

-

Yuen2017 G

TJP2

Li2017:1

chr9:
71850954-71850954

C

CA

exonic

Unknown

frameshift insertion

NM_001170415
NM_001170416
NM_001170630
NM_004817
NM_201629
NM_001170414

c.1804dupA
c.1885dupA
c.1792dupA
c.1792dupA
c.1792dupA
c.1723dupA

p.D601fs
p.D628fs
p.D597fs
p.D597fs
p.D597fs
p.D574fs

-

Li2017 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
Curation notes	View
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