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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     Li2017:19770chr9:
71845071-71845071
GAexonicUnknownnonsynonymous SNVNM_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
34.01.648E-5Li2017 T
TJP2     AU060403chr9:
71852772-71852773
ATAintronicDe novo--Yuen2017 G
TJP2     Li2017:16180chr9:
71835819-71835819
GAexonicUnknownnonsynonymous SNVNM_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     Li2017:18917chr9:
71867758-71867759
ATAexonicUnknownframeshift deletionNM_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     2-1341-004chr9:
71866313-71866313
GGAGTTTTAAATAintronicDe novo--Yuen2017 G
TJP2     Li2017:20997chr9:
71831282-71831282
GCexonicUnknownnonsynonymous SNVNM_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     Li2017:33chr9:
71867758-71867759
ATAexonicUnknownframeshift deletionNM_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     2-1183-003chr9:
71761631-71761631
TCintronicDe novo--Yuen2017 G
TJP2     Li2017:16274chr9:
71833199-71833199
AGexonicUnknownnonsynonymous SNVNM_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     Li2017:23720chr9:
71849443-71849443
TCexonicDe novononsynonymous SNVNM_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_28chr9:
71863039-71863039
GAexonicPaternalnonsynonymous SNVNM_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     Li2017:23742chr9:
71851918-71851918
GAexonicUnknownnonsynonymous SNVNM_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
36.01.647E-5Li2017 T
TJP2     2-1477-003chr9:
71863385-71863385
CTUTR3De novo--Yuen2016 G
Yuen2017 G
TJP2     2-0081-003chr9:
71743684-71743684
CTintronicDe novo--Yuen2017 G
TJP2     2-1213-003chr9:
71856751-71856751
CAintronicDe novo--Yuen2017 G
TJP2     AU1448301chr9:
71824396-71824396
GAintronicDe novo--Yuen2017 G
TJP2     13665.p1chr9:
71853630-71853630
GAexonicDe novosynonymous SNVNM_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     Li2017:23127chr9:
71861618-71861618
TCexonicUnknownnonsynonymous SNVNM_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     A23chr9:
71850955-71850955
AAAexonicDe novoframeshift insertionNM_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     A21chr9:
71867758-71867759
ATAexonicDe novoframeshift deletionNM_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     AU038203chr9:
71831803-71831803
GCintronicDe novo--Yuen2017 G
TJP2     1-0144-004chr9:
71832023-71832023
CTintronicDe novo--Yuen2017 G
TJP2     AU3154302chr9:
71821237-71821237
CTintronicDe novo--Yuen2017 G
TJP2     2-1735-003chr9:
71770367-71770367
GAintronicDe novo--Yuen2017 G
TJP2     Li2017:1chr9:
71850954-71850954
CCAexonicUnknownframeshift insertionNM_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

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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 notesView
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