Variant Results

or

or

Results for "TRIM9"

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

TRIM9

AU034904

chr14:
51543951-51543951

C

T

intronic

De novo

-

-

Yuen2017 G

TRIM9

1-0259-003

chr14:
51590673-51590673

G

A

intergenic

De novo

-

-

Yuen2017 G

TRIM9

Al-Mubarak2017:ASD-21

chr14:
51464728-51464728

C

T

exonic

Unknown

nonsynonymous SNV

NM_052978

c.G1643A

p.R548H

15.74

Al-Mubarak2017 E

TRIM9

EGAN00001101400

chr14:
51450185-51450185

T

C

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

TRIM9

AU3903301

chr14:
51583212-51583212

A

G

intergenic

De novo

-

-

Yuen2017 G

TRIM9

AU3371301

chr14:
51568476-51568476

C

T

intergenic

De novo

-

-

Yuen2017 G

TRIM9

7-0149-003

chr14:
51469300-51469300

G

C

intronic

De novo

-

-

Yuen2017 G

TRIM9

AU3779304

chr14:
51674096-51674096

C

T

intergenic

De novo

-

-

Yuen2017 G

TRIM9

SP0021672

chr14:
51464836-51464836

C

T

exonic

De novo

nonsynonymous SNV

NM_015163
NM_052978

c.G1535A
c.G1535A

p.R512Q
p.R512Q

31.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM9

1-0859-003

chr14:
51536952-51536953

AG

A

intronic

De novo

-

-

Trost2022 G

TRIM9

5-5152-003

chr14:
51547218-51547218

G

T

intronic

De novo

-

-

Trost2022 G

TRIM9

1030

chr14:
51463987-51463987

C

T

UTR3

De novo

-

-

Trost2022 G

TRIM9

AU2029301

chr14:
51590569-51590569

A

G

intergenic

De novo

-

-

Yuen2017 G

TRIM9

SP0013216

chr14:
51561285-51561285

A

C

exonic

De novo

nonsynonymous SNV

NM_015163
NM_052978

c.T373G
c.T373G

p.C125G
p.C125G

11.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM9

1-1201-003

chr14:
51490225-51490225

G

A

intronic

De novo

-

-

Trost2022 G

TRIM9

1-0385-003

chr14:
51662708-51662708

C

T

intergenic

De novo

-

-

Yuen2017 G

TRIM9

AU2123301

chr14:
51458969-51458970

CA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM9

AU1764301

chr14:
51492789-51492789

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM9

2-1647-003

chr14:
51441954-51441954

T

C

downstream

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
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