Variant Results

or

Results for "TRIM17"

Variant Events: 11

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

TRIM17

13586.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001024940
NM_001134855
NM_016102
NM_001024940
NM_001134855
NM_016102

c.821dupC
c.821dupC
c.821dupC
c.820dupC
c.820dupC
c.820dupC

p.P274fs
p.P274fs
p.P274fs
p.P274fs
p.P274fs
p.P274fs

-

4.0E-4

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

TRIM17

1-0294-003

chr1:
228598833-228598833

C

T

exonic

De novo

synonymous SNV

NM_001024940
NM_001134855
NM_016102

c.G570A
c.G570A
c.G570A

p.E190E
p.E190E
p.E190E

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

TRIM17

SP0110740

chr1:
228596057-228596057

C

T

exonic

De novo

nonsynonymous SNV

NM_001024940
NM_016102

c.G1279A
c.G1279A

p.G427R
p.G427R

13.84

2.0E-4

Trost2022 G

TRIM17

3-0116-001

chr1:
228595841-228595841

A

G

UTR3

De novo

-

Trost2022 G

TRIM17

SP0024029

chr1:
228604409-228604413

GCGGC

G

UTR5

De novo

-

Fu2022 E

TRIM17

1-0321-004

chr1:
228600032-228600035

CCGA

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIM17

SP0110740

chr1:
228596051-228596051

C

G

exonic

De novo

nonsynonymous SNV

NM_001024940
NM_016102

c.G1285C
c.G1285C

p.V429L
p.V429L

0.328

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIM17

mAGRE4667

chr1:
228596339-228596339

G

A

exonic

Maternal

stopgain

NM_001024940
NM_016102

c.C997T
c.C997T

p.R333X
p.R333X

41.0

1.0E-4

Cirnigliaro2023 G

TRIM17

mAGRE4295

chr1:
228595984-228595997

GGGCCTGGGAAGGT

G

exonic

Maternal

frameshift deletion

NM_001024940
NM_016102

c.1339_1351del
c.1339_1351del

p.T447fs
p.T447fs

-

2.643E-5

Cirnigliaro2023 G

TRIM17

SSC08041

chr1:
228596934-228596934

T

TG

exonic

De novo

frameshift insertion

NM_001024940
NM_001134855
NM_016102

c.821dupC
c.821dupC
c.821dupC

p.P274fs
p.P274fs
p.P274fs

-

4.0E-4

Fu2022 E
Trost2022 G

TRIM17

Li2017:23067

chr1:
228602580-228602580

C

T

exonic

Unknown

nonsynonymous SNV

NM_001024940
NM_001134855
NM_016102

c.G194A
c.G194A
c.G194A

p.C65Y
p.C65Y
p.C65Y

17.58

-

Li2017 T

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