Variant Results

or

or

Results for "TRIM67"

Variant Events: 17

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

TRIM67

1-0699-003

chr1:
231306091-231306091

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TRIM67

111304

chr1:
231299358-231299358

C

A

exonic

nonsynonymous SNV

NM_001004342
NM_001300889

c.C643A
c.C523A

p.P215T
p.P175T

24.4

-

Woodbury-Smith2022 E

TRIM67

2-1505-003

chr1:
231337994-231337994

T

C

intronic

De novo

-

-

Yuen2017 G

TRIM67

iHART2234

chr1:
231299384-231299384

C

A

exonic

Paternal

stopgain

NM_001004342
NM_001300889

c.C669A
c.C549A

p.C223X
p.C183X

45.0

-

Ruzzo2019 G

TRIM67

1-0022-004

chr1:
231337864-231337864

G

A

intronic

De novo

-

-

Trost2022 G

TRIM67

H3E8D_01

chr1:
231312677-231312677

C

A

intronic

De novo

-

-

Trost2022 G

TRIM67

3-0309-000

chr1:
231337976-231337976

G

T

intronic

De novo

-

-

Trost2022 G

TRIM67

3-0005-000

chr1:
231337931-231337931

G

A

intronic

De novo

-

-

Trost2022 G

TRIM67

SJD_10.3

chr1:
231298606-231298606

C

T

upstream

De novo

-

-

Trost2022 G

TRIM67

2-1183-003

chr1:
231337988-231337988

G

A

intronic

De novo

-

-

Trost2022 G

TRIM67

A16

chr1:
231329238-231329238

C

CCT

intronic

De novo

-

-

Wu2018 G

TRIM67

AU4394302

chr1:
231337976-231337976

G

T

intronic

De novo

-

-

Trost2022 G

TRIM67

SP0016847

chr1:
231354391-231354391

A

G

UTR3

De novo

-

-

Trost2022 G

TRIM67

AU060703

chr1:
231337988-231337988

G

A

intronic

De novo

-

-

Trost2022 G

TRIM67

1-0402-003

chr1:
231337999-231337999

A

ATAATGG

intronic

De novo

-

-

Yuen2017 G

TRIM67

A16

chr1:
231333593-231333593

A

G

intronic

De novo

-

-

Wu2018 G

TRIM67

2-1734-003

chr1:
231347733-231347733

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 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