Variant Results

or

or

Results for "TPBG"

Variant Events: 26

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

TPBG

2-0503-004

chr6:
83335079-83335079

C

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1170-003

chr6:
83506707-83506707

T

C

intergenic

De novo

-

-

Yuen2017 G

TPBG

7-0141-003

chr6:
83109031-83109034

GCCC

GCC

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1277-004

chr6:
83232830-83232830

G

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU1404301

chr6:
83527200-83527200

T

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU1698302

chr6:
83374283-83374283

G

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1376-003

chr6:
83303416-83303416

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TPBG

SP0011734

chr6:
83079947-83079947

T

C

intergenic

De novo

-

-

Fu2022 E

TPBG

2-1290-003

chr6:
83362067-83362067

C

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

1-0380-003

chr6:
83088004-83088004

C

G

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU3761301

chr6:
83218618-83218618

G

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

1-0969-003

chr6:
83144680-83144680

A

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1357-004

chr6:
83502444-83502444

G

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU4024303

chr6:
83456483-83456483

C

G

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1626-003

chr6:
83316645-83316658

TTTATTATTATTAT

TTTATTATTAT

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-0045-003

chr6:
83468373-83468373

A

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU3703302

chr6:
83474086-83474086

C

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

09C82110

chr6:
83075603-83075603

C

A

exonic

De novo

nonsynonymous SNV

NM_001166392
NM_006670

c.C925A
c.C925A

p.L309I
p.L309I

19.91

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TPBG

1-0191-003

chr6:
83374862-83374862

C

G

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU011604

chr6:
83414720-83414720

G

T

intergenic

De novo

-

-

Yuen2017 G

TPBG

AU021204

chr6:
83394604-83394604

A

G

intergenic

De novo

-

-

Yuen2017 G

TPBG

SP0077932

chr6:
83075298-83075298

G

A

exonic

De novo

nonsynonymous SNV

NM_001166392
NM_006670

c.G620A
c.G620A

p.R207H
p.R207H

8.067

Fu2022 E
Trost2022 G
Zhou2022 GE

TPBG

AU4444304

chr6:
83327938-83327938

G

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

2-1153-003

chr6:
83464996-83464996

G

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TPBG

AU050403

chr6:
83153324-83153324

T

A

intergenic

De novo

-

-

Yuen2017 G

TPBG

08C75407

chr6:
83075768-83075768

G

T

exonic

De novo

nonsynonymous SNV

NM_001166392
NM_006670

c.G1090T
c.G1090T

p.A364S
p.A364S

26.9

-

Fu2022 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
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