Variant Results

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or

Results for "TJP3"

Variant Events: 14

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

TJP3

2-1425-004

chr19:
3731949-3731949

G

A

exonic

De novo

synonymous SNV

NM_001267560
NM_001267561

c.G630A
c.G657A

p.L210L
p.L219L

-

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

TJP3

SP0159378

chr19:
3730525-3730525

G

A

exonic

De novo

nonsynonymous SNV

NM_001267560
NM_001267561

c.G434A
c.G461A

p.R145H
p.R154H

15.12

Trost2022 G

TJP3

3-0719-000

chr19:
3741537-3741537

A

C

intronic

De novo

-

-

Trost2022 G

TJP3

mAGRE4432

chr19:
3748060-3748060

C

A

exonic

Maternal

stopgain

NM_001267560
NM_001267561

c.C2591A
c.C2618A

p.S864X
p.S873X

36.0

Cirnigliaro2023 G

TJP3

mAGRE5833

chr19:
3747869-3747870

CA

C

exonic

Maternal

frameshift deletion

NM_001267560
NM_001267561

c.2401delA
c.2428delA

p.S801fs
p.S810fs

-

-

Cirnigliaro2023 G

TJP3

SP0000301

chr19:
3746823-3746823

G

T

exonic

De novo

nonsynonymous SNV

NM_001267560
NM_001267561

c.G2271T
c.G2298T

p.K757N
p.K766N

17.63

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TJP3

SSC03053

chr19:
3743971-3743971

C

T

exonic

De novo

synonymous SNV

NM_001267560
NM_001267561

c.C1878T
c.C1905T

p.P626P
p.P635P

-

Fu2022 E
Trost2022 G

TJP3

TRE_225

chr19:
3736219-3736219

G

A

exonic

De novo

nonsynonymous SNV

NM_001267560
NM_001267561

c.G1184A
c.G1211A

p.R395Q
p.R404Q

13.62

Fu2022 E

TJP3

SP0127928

chr19:
3730575-3730575

C

T

exonic

nonsynonymous SNV

NM_001267560
NM_001267561

c.C484T
c.C511T

p.R162C
p.R171C

12.18

Zhou2022 GE

TJP3

1237_17au

chr19:
3730747-3730747

A

G

intronic

De novo

-

Fu2022 E

TJP3

SP0027493

chr19:
3746484-3746484

A

T

exonic

De novo

nonsynonymous SNV

NM_001267560
NM_001267561

c.A2012T
c.A2039T

p.D671V
p.D680V

14.85

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TJP3

SP0131089

chr19:
3730437-3730437

G

A

exonic

De novo

nonsynonymous SNV

NM_001267560
NM_001267561

c.G346A
c.G373A

p.D116N
p.D125N

11.46

Fu2022 E
Trost2022 G
Zhou2022 GE

TJP3

SP0063187

chr19:
3730538-3730538

G

A

exonic

De novo

synonymous SNV

NM_001267560
NM_001267561

c.G447A
c.G474A

p.P149P
p.P158P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TJP3

11720.p1

chr19:
3743971-3743971

C

T

exonic

De novo

synonymous SNV

NM_001267560
NM_001267561

c.C1878T
c.C1905T

p.P626P
p.P635P

-

Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

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
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