Variant Results

or

Results for "DIAPH3"

Variant Events: 24

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

DIAPH3

1-0593-003

chr13:
60354961-60354961

A

G

intronic

De novo

-

Yuen2017 G

DIAPH3

2-0142-004

chr13:
60436103-60436103

A

G

intronic

De novo

-

Yuen2017 G

DIAPH3

1-0625-003

chr13:
60656452-60656452

A

T

intronic

De novo

-

Yuen2017 G

DIAPH3

2-1343-003

chr13:
60778430-60778430

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DIAPH3

1-0547-003

chr13:
60537979-60537979

A

T

intronic

De novo

-

Yuen2017 G

DIAPH3

2-1738-003

chr13:
60468374-60468374

T

C

intronic

De novo

-

Yuen2017 G

DIAPH3

5-0014-003

chr13:
60360762-60360762

A

G

intronic

De novo

-

Yuen2017 G

DIAPH3

2-1361-003

chr13:
60483701-60483701

C

T

intronic

De novo

-

Yuen2017 G

DIAPH3

2-1518-003

chr13:
60559273-60559273

T

G

intronic

De novo

-

Yuen2017 G

DIAPH3

iHART2253

chr13:
60385029-60385029

C

CT

exonic

Unknown

frameshift insertion

NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369

c.2266dupA
c.2917dupA
c.2845dupA
c.3022dupA
c.3055dupA
c.3055dupA

p.R756fs
p.R973fs
p.R949fs
p.R1008fs
p.R1019fs
p.R1019fs

-

8.552E-5

Ruzzo2019 G

DIAPH3

13393.p1

chr13:
60565771-60565771

T

C

intronic

De novo

-

Turner2016 G

DIAPH3

AU050604

chr13:
60715212-60715212

G

C

intronic

De novo

-

Yuen2017 G

DIAPH3

iHART2255

chr13:
60385029-60385029

C

CT

exonic

Unknown

frameshift insertion

NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369

c.2266dupA
c.2917dupA
c.2845dupA
c.3022dupA
c.3055dupA
c.3055dupA

p.R756fs
p.R973fs
p.R949fs
p.R1008fs
p.R1019fs
p.R1019fs

-

8.552E-5

Ruzzo2019 G

DIAPH3

AU3637301

chr13:
60777966-60777966

T

C

intergenic

De novo

-

Yuen2017 G

DIAPH3

12536.p1

chr13:
60545105-60545105

G

A

exonic

Mosaic Pat.

nonsynonymous SNV

NM_001258370
NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369

c.C1051T
c.C1051T
c.C1702T
c.C1630T
c.C1807T
c.C1840T
c.C1840T

p.P351S
p.P351S
p.P568S
p.P544S
p.P603S
p.P614S
p.P614S

21.1

3.314E-5

Dou2017 E

DIAPH3

5-0110-003

chr13:
60401243-60401243

G

A

intronic

De novo

-

Yuen2017 G

DIAPH3

5-0014-004

chr13:
60657282-60657282

A

C

intronic

De novo

-

Yuen2017 G

DIAPH3

5-0017-003

chr13:
60409062-60409062

C

A

intronic

De novo

-

Yuen2017 G

DIAPH3

2-1129-003

chr13:
60483546-60483546

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DIAPH3

A15

chr13:
60469224-60469224

T

C

intronic

De novo

-

Wu2018 G

DIAPH3

PN400277

chr13:
60348895-60348895

G

A

exonic

Unknown

nonsynonymous SNV

NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369

c.C2437T
c.C3088T
c.C3016T
c.C3193T
c.C3226T
c.C3226T

p.R813C
p.R1030C
p.R1006C
p.R1065C
p.R1076C
p.R1076C

18.91

0.0017

Leblond2019 E

DIAPH3

AU4015302

chr13:
60444945-60444945

C

T

intronic

De novo

-

Yuen2017 G

DIAPH3

14647.p1

chr13:
60544175-60544175

C

A

exonic

Mosaic

nonsynonymous SNV

NM_001258370
NM_030932
NM_001258367
NM_001258368
NM_001258366
NM_001042517
NM_001258369

c.G1188T
c.G1188T
c.G1839T
c.G1767T
c.G1944T
c.G1977T
c.G1977T

p.M396I
p.M396I
p.M613I
p.M589I
p.M648I
p.M659I
p.M659I

12.28

-

Dou2017 E

DIAPH3

1-0524-003

chr13:
60561172-60561172

C

A

intronic

De novo

-

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
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