Variant Results

or

or

Results for "TRIM2"

Variant Events: 22

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

TRIM2

AU3900302

chr4:
154123864-154123864

A

G

intronic

De novo

-

-

Trost2022 G

TRIM2

2-1724-003

chr4:
154155467-154155467

A

G

intronic

De novo

-

-

Trost2022 G

TRIM2

1-0683-004

chr4:
154084933-154084934

AA

CG

intronic

De novo

-

-

Trost2022 G

TRIM2

1-0142-005

chr4:
154084933-154084934

AA

CG

intronic

De novo

-

-

Trost2022 G

TRIM2

4-0077-003

chr4:
154084933-154084934

AA

CG

intronic

De novo

-

-

Trost2022 G

TRIM2

1-0172-005

chr4:
154084933-154084934

AA

CG

intronic

De novo

-

-

Trost2022 G

TRIM2

SP0032561

chr4:
154216536-154216536

G

A

exonic

De novo

synonymous SNV

NM_001130067
NM_015271

c.G777A
c.G858A

p.A259A
p.A286A

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM2

2-1526-003

chr4:
154084915-154084917

GAC

AAG

intronic

De novo

-

-

Trost2022 G

TRIM2

1-0172-005

chr4:
154084915-154084917

GAC

AAG

intronic

De novo

-

-

Trost2022 G

TRIM2

133350

chr4:
154256086-154256086

C

T

exonic

nonsynonymous SNV

NM_001130067
NM_015271

c.C2203T
c.C2284T

p.H735Y
p.H762Y

23.6

-

Woodbury-Smith2022 E

TRIM2

1-0288-004

chr4:
154232696-154232696

T

C

intronic

De novo

-

-

Trost2022 G

TRIM2

1-0756-003

chr4:
154079856-154079856

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM2

SP0129616

chr4:
154256246-154256246

A

C

UTR3

De novo

-

-

Fu2022 E
Trost2022 G

TRIM2

AU2140306

chr4:
154253603-154253603

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM2

SP0021486

chr4:
154216795-154216795

G

T

exonic

De novo

nonsynonymous SNV

NM_001130067
NM_015271

c.G1036T
c.G1117T

p.V346F
p.V373F

11.82

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM2

1-0998-003

chr4:
154165273-154165333

ATCTTCTTCTTCTTCTTCTTCTTGTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCT

ATCTTCTTCTTCTTCTTCTTGTTCTTCTTGTTCTTCTTCTTCTTCTTCTTCTTCTTCT

intronic

De novo

-

-

Yuen2017 G

TRIM2

SP0128256

chr4:
154237026-154237026

C

T

exonic

De novo

nonsynonymous SNV

NM_001130067
NM_015271

c.C1576T
c.C1657T

p.R526W
p.R553W

13.6

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM2

2-1346-003

chr4:
154228347-154228347

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM2

7-0230-003

chr4:
154084809-154084810

AT

GC

intronic

De novo

-

-

Trost2022 G

TRIM2

7-0230-003

chr4:
154084814-154084814

T

C

intronic

De novo

-

-

Trost2022 G

TRIM2

AU027506

chr4:
154106412-154106412

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM2

4-0010-003

chr4:
154080614-154080614

G

A

intronic

De novo

-

-

Trost2022 G

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
	More