Variant Results

or

Results for "TRAPPC11"

Variant Events: 28

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

TRAPPC11

829_17au

chr4:
184605701-184605701

G

A

intronic

De novo

-

Fu2022 E

TRAPPC11

1-0465-003a

chr4:
184679505-184679505

A

C

intergenic

De novo

-

Yuen2017 G

TRAPPC11

1-0652-004

chr4:
184583281-184583281

G

C

intronic

De novo

-

Yuen2017 G

TRAPPC11

13927.p1

chr4:
184585051-184585051

G

A

exonic

De novo

nonsynonymous SNV

NM_021942
NM_199053

c.G31A
c.G31A

p.E11K
p.E11K

27.6

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

TRAPPC11

MT_160

chr4:
184601362-184601362

A

G

exonic

Maternal

nonsynonymous SNV

NM_021942
NM_199053

c.A1055G
c.A1055G

p.Q352R
p.Q352R

25.4

8.239E-6

Toma2013 E

TRAPPC11

2-1290-003

chr4:
184664174-184664174

A

T

intergenic

De novo

-

Yuen2017 G

TRAPPC11

iHART2688

chr4:
184600628-184600628

G

A

exonic

Maternal

stopgain

NM_021942
NM_199053

c.G954A
c.G954A

p.W318X
p.W318X

40.0

-

Ruzzo2019 G

TRAPPC11

AU3911302

chr4:
184658599-184658614

GGTGTAGGTTGTAGTG

GGTGTAGGTTGTAGTGTAGGTTGTAGTG

intergenic

De novo

-

Yuen2017 G

TRAPPC11

13927_p1

chr4:
184585051-184585051

G

A

exonic

De novo

nonsynonymous SNV

NM_021942
NM_199053

c.G31A
c.G31A

p.E11K
p.E11K

27.6

-

Fu2022 E

TRAPPC11

1-0482-003

chr4:
184688112-184688112

C

G

intergenic

De novo

-

Yuen2017 G

TRAPPC11

AU3861301

chr4:
184777949-184777949

C

A

intergenic

De novo

-

Yuen2017 G

TRAPPC11

2-1567-004

chr4:
184709125-184709125

G

A

intergenic

De novo

-

Yuen2017 G

TRAPPC11

1-0465-003

chr4:
184679505-184679505

A

C

intergenic

De novo

-

Yuen2017 G

TRAPPC11

AU3911301

chr4:
184658599-184658614

GGTGTAGGTTGTAGTG

GGTGTAGGTTGTAGTGTAGGTTGTAGTG

intergenic

De novo

-

Yuen2017 G

TRAPPC11

AU0786305

chr4:
184642005-184642005

A

G

intergenic

De novo

-

Yuen2017 G

TRAPPC11

1006001

chr4:
184629585-184629585

C

T

exonic

De novo

nonsynonymous SNV

NM_021942

c.C3215T

p.T1072M

17.8

6.592E-5

Fu2022 E
Satterstrom2020 E

TRAPPC11

2-1341-003

chr4:
184615338-184615338

A

G

intronic

De novo

-

Yuen2017 G

TRAPPC11

2-1341-004

chr4:
184585774-184585777

AGAC

A

intronic

De novo

-

Yuen2017 G

TRAPPC11

SP0059274

chr4:
184601217-184601217

A

C

intronic

De novo

-

Fu2022 E

TRAPPC11

1-0092-004

chr4:
184640394-184640394

C

T

intergenic

De novo

-

Yuen2017 G

TRAPPC11

SP0073280

chr4:
184618925-184618925

A

G

exonic

De novo

nonsynonymous SNV

NM_021942
NM_199053

c.A2788G
c.A2788G

p.S930G
p.S930G

20.4

-

Fu2022 E

TRAPPC11

SP0124011

chr4:
184614355-184614356

AT

A

intronic

De novo

-

Fu2022 E

TRAPPC11

SP0077617

chr4:
184614320-184614320

C

T

intronic

De novo

-

Fu2022 E

TRAPPC11

SP0130655

chr4:
184626143-184626144

TG

T

exonic

De novo

frameshift deletion

NM_021942
NM_199053

c.2976delG
c.2976delG

p.M992fs
p.M992fs

-

Fu2022 E

TRAPPC11

AU2792302

chr4:
184652156-184652156

C

G

intergenic

De novo

-

Yuen2017 G

TRAPPC11

1-0439-003

chr4:
184736162-184736162

T

C

intergenic

De novo

-

Yuen2017 G

TRAPPC11

SP0118594

chr4:
184615248-184615248

T

C

intronic

De novo

-

Fu2022 E

TRAPPC11

SP0020605

chr4:
184614917-184614917

T

C

intronic

De novo

-

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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