Variant Results

or

Results for "TRIOBP"

Variant Events: 25

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

TRIOBP

SP0046605

chr22:
38161768-38161768

G

A

exonic

De novo

nonsynonymous SNV

NM_007032
NM_001039141

c.G1277A
c.G6416A

p.R426H
p.R2139H

21.2

-

Fu2022 E

TRIOBP

SP0024272

chr22:
38153876-38153876

C

T

exonic

De novo

nonsynonymous SNV

NM_007032
NM_138632
NM_001039141

c.C805T
c.C805T
c.C5944T

p.R269C
p.R269C
p.R1982C

26.0

-

Fu2022 E

TRIOBP

SP0025807

chr22:
38136951-38136951

G

A

exonic

De novo

nonsynonymous SNV

NM_001039141

c.G5234A

p.R1745Q

25.8

-

Fu2022 E

TRIOBP

SP0068517

chr22:
38121322-38121322

G

A

exonic

De novo

nonsynonymous SNV

NM_001039141

c.G2759A

p.R920Q

22.3

8.309E-6

Fu2022 E

TRIOBP

1-0488-003

chr22:
38114079-38114079

C

T

intronic

De novo

-

Yuen2017 G

TRIOBP

7-0059-003

chr22:
38191340-38191340

G

A

intergenic

De novo

-

Yuen2017 G

TRIOBP

SP0140190

chr22:
38155474-38155474

T

G

exonic

De novo

synonymous SNV

NM_138632

c.T1236G

p.S412S

-

Fu2022 E

TRIOBP

SP0004507

chr22:
38165373-38165373

C

T

exonic

De novo

synonymous SNV

NM_007032
NM_001039141

c.C1701T
c.C6840T

p.C567C
p.C2280C

-

1.386E-5

Fu2022 E

TRIOBP

SP0027820

chr22:
38161838-38161838

G

C

intronic

De novo

-

2.0E-4

Fu2022 E

TRIOBP

AU3907302

chr22:
38166631-38166631

A

G

intronic

De novo

-

Yuen2017 G

TRIOBP

PN400504

chr22:
38129388-38129388

G

A

exonic

Unknown

nonsynonymous SNV

NM_001039141

c.G4031A

p.R1344Q

34.0

0.0032

Leblond2019 E

TRIOBP

PN400170

chr22:
38129388-38129388

G

A

exonic

Unknown

nonsynonymous SNV

NM_001039141

c.G4031A

p.R1344Q

34.0

0.0032

Leblond2019 E

TRIOBP

AU3853302

chr22:
38125863-38125863

C

T

intronic

De novo

-

Yuen2017 G

TRIOBP

3-0209-000

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_001039141
NM_001039141

c.T5102G
c.C5101G

p.L1701R
p.L1701V

12.83

-

Tammimies2015 E
Tammimies2015 E
Yuen2017 G
Yuen2017 G

TRIOBP

2-0285-003

chr22:
38114127-38114127

G

C

intronic

De novo

-

Yuen2017 G

TRIOBP

1-0233-004

chr22:
38133057-38133057

G

A

intronic

De novo

-

Yuen2017 G

TRIOBP

1-0551-003

chr22:
38184547-38184548

CT

C

intergenic

De novo

-

Yuen2017 G

TRIOBP

PN400166

chr22:
38129388-38129388

G

A

exonic

Unknown

nonsynonymous SNV

NM_001039141

c.G4031A

p.R1344Q

34.0

0.0032

Leblond2019 E

TRIOBP

PN400477

chr22:
38165269-38165269

G

A

exonic

Unknown

nonsynonymous SNV

NM_007032
NM_001039141

c.G1597A
c.G6736A

p.E533K
p.E2246K

32.0

0.0061

Leblond2019 E

TRIOBP

PN400371

chr22:
38165269-38165269

G

A

exonic

Unknown

nonsynonymous SNV

NM_007032
NM_001039141

c.G1597A
c.G6736A

p.E533K
p.E2246K

32.0

0.0061

Leblond2019 E

TRIOBP

PN400584

chr22:
38155195-38155195

G

A

exonic

Unknown

nonsynonymous SNV

NM_007032
NM_138632
NM_001039141

c.G1109A
c.G1109A
c.G6248A

p.R370H
p.R370H
p.R2083H

23.1

1.0E-4

Leblond2019 E

TRIOBP

iHART2292

chr22:
38120739-38120739

C

T

exonic

Maternal

stopgain

NM_001039141

c.C2176T

p.R726X

38.0

1.656E-5

Ruzzo2019 G

TRIOBP

PN400157

chr22:
38153881-38153881

C

T

exonic

De novo

synonymous SNV

NM_007032
NM_138632
NM_001039141

c.C810T
c.C810T
c.C5949T

p.S270S
p.S270S
p.S1983S

8.469

-

Leblond2019 E

TRIOBP

3-0065-000

chr22:
38142319-38142342

GGGCGGCGGCGGCGGCGGCGGCGG

GGGCGGCGGCGGCGGCGGCGG

exonic

De novo

nonframeshift deletion

NM_007032
NM_138632

c.96_98del
c.96_98del

p.32_33del
p.32_33del

-

Yuen2017 G

TRIOBP

08C74782

chr22:
38119272-38119272

C

T

exonic

De novo

nonsynonymous SNV

NM_001039141

c.C709T

p.R237W

12.55

7.0E-4

Satterstrom2020 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
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