Variant Results

or

Results for "TRAPPC10"

Variant Events: 19

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

TRAPPC10

14300.p1

chr21:
45502691-45502691

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_003274

c.G1746A

p.M582I

16.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

TRAPPC10

SSC11302

chr21:
45502691-45502691

G

A

exonic

De novo

nonsynonymous SNV

NM_003274

c.G1746A

p.M582I

16.0

-

Fu2022 E
Lim2017 E
Trost2022 G

TRAPPC10

AU073005

chr21:
45443070-45443070

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC10

1-0393-003

chr21:
45443638-45443653

TTTTGTTTGTTTGTTT

TTTTGTTTGTTT

intronic

De novo

-

Yuen2017 G

TRAPPC10

1-0018-003

chr21:
45513188-45513192

TAGTC

T

intronic

De novo

-

Trost2022 G

TRAPPC10

1-0458-005

chr21:
45491337-45491337

T

A

intronic

De novo

-

Trost2022 G

TRAPPC10

SP0076411

chr21:
45483377-45483377

A

C

intronic

De novo

-

Trost2022 G

TRAPPC10

MSSNG00328-003

chr21:
45467588-45467588

C

G

intronic

De novo

-

Trost2022 G

TRAPPC10

2-0725-003

chr21:
45461936-45461936

T

C

intronic

De novo

-

Trost2022 G

TRAPPC10

MT_35.3

chr21:
45435363-45435363

G

A

intronic

De novo

-

Trost2022 G

TRAPPC10

142090

chr21:
45502843-45502843

T

C

exonic

De novo

nonsynonymous SNV

NM_003274

c.T1898C

p.I633T

13.77

3.295E-5

Fu2022 E

TRAPPC10

13582.p1

chr21:
45510606-45510606

C

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E

TRAPPC10

2-0318-004

chr21:
45483599-45483599

C

T

exonic

De novo

nonsynonymous SNV

NM_003274

c.C971T

p.P324L

35.0

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

TRAPPC10

SP0104807

chr21:
45472311-45472311

A

G

exonic

De novo

nonsynonymous SNV

NM_003274

c.A436G

p.I146V

4.849

8.389E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

TRAPPC10

DEASD_3024_001

chr21:
45497593-45497593

T

C

exonic

De novo

nonsynonymous SNV

NM_003274

c.T1397C

p.I466T

14.73

-

Fu2022 E

TRAPPC10

SP0008679

chr21:
45452086-45452086

C

T

intronic

De novo

-

Fu2022 E

TRAPPC10

DEASD_0290_001

chr21:
45507575-45507575

C

T

intronic

De novo

-

9.093E-5

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRAPPC10

80001100861

chr21:
45509690-45509690

A

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TRAPPC10

22364.p1

chr21:
45507799-45507799

C

T

exonic

nonsynonymous SNV

NM_003274

c.C2759T

p.T920I

1.351

9.582E-6

Zhou2022 GE

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
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