Variant Results

or

Results for "TDRD9"

Variant Events: 28

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

TDRD9

REACH000159

chr14:
104415250-104415250

G

A

intronic

De novo

-

Trost2022 G

TDRD9

REACH000239

chr14:
104427856-104427856

C

T

intronic

De novo

-

Trost2022 G

TDRD9

1-0193-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G
Yuen2017 G

TDRD9

1-0193-003

chr14:
104457887-104457887

C

T

intronic

De novo

-

Yuen2017 G

TDRD9

1-1138-003

chr14:
104422064-104422064

A

G

exonic

De novo

synonymous SNV

NM_153046

c.A279G

p.Q93Q

-

Trost2022 G
Zhou2022 GE

TDRD9

3-0442-000

chr14:
104479854-104479856

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TDRD9

AU004403

chr14:
104489605-104489605

T

C

intronic

De novo

-

Trost2022 G

TDRD9

MSSNG00043-003

chr14:
104511464-104511464

C

T

intronic

De novo

-

Trost2022 G

TDRD9

1-0340-004

chr14:
104476819-104476819

T

C

intronic

De novo

-

Trost2022 G

TDRD9

AU004403

chr14:
104489554-104489554

A

G

intronic

De novo

-

Trost2022 G

TDRD9

iHART2473

chr14:
104431789-104431789

C

A

exonic

Paternal

stopgain

NM_153046

c.C540A

p.C180X

17.23

-

Ruzzo2019 G

TDRD9

iHART2474

chr14:
104431789-104431789

C

A

exonic

Paternal

stopgain

NM_153046

c.C540A

p.C180X

17.23

-

Ruzzo2019 G

TDRD9

2-0171-003

chr14:
104491924-104491924

G

C

exonic

De novo

nonsynonymous SNV

NM_153046

c.G2742C

p.W914C

19.32

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

TDRD9

5-0074-003

chr14:
104517804-104517804

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TDRD9

2-0171-003

chr14:
104492097-104492097

C

T

exonic

De novo

nonsynonymous SNV

NM_153046

c.C2915T

p.S972F

4.237

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

TDRD9

2-1421-003

chr14:
104507445-104507445

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TDRD9

11C119380

chr14:
104481129-104481129

G

A

exonic

De novo

nonsynonymous SNV

NM_153046

c.G2174A

p.R725Q

7.213

-

Fu2022 E

TDRD9

mAGRE5374

chr14:
104436887-104436887

C

T

exonic

Maternal

stopgain

NM_153046

c.C775T

p.R259X

39.0

4.64E-5

Cirnigliaro2023 G

TDRD9

mAGRE2474

chr14:
104431789-104431789

C

A

exonic

Paternal

stopgain

NM_153046

c.C540A

p.C180X

17.23

-

Cirnigliaro2023 G

TDRD9

mAGRE2473

chr14:
104431789-104431789

C

A

exonic

Paternal

stopgain

NM_153046

c.C540A

p.C180X

17.23

-

Cirnigliaro2023 G

TDRD9

2-0171-003

chr14:
104494635-104494635

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TDRD9

2-0171-003

chr14:
104492261-104492261

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TDRD9

SP0096657

chr14:
104457439-104457439

A

G

intronic

De novo

-

Fu2022 E

TDRD9

1-0049-004

chr14:
104480663-104480663

C

CTGTA

intronic

De novo

-

Trost2022 G
Yuen2017 G

TDRD9

08C75089

chr14:
104436844-104436844

C

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

TDRD9

SP0068528

chr14:
104431754-104431754

A

G

exonic

De novo

nonsynonymous SNV

NM_153046

c.A505G

p.I169V

7.61

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TDRD9

2-0171-003

chr14:
104495506-104495506

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TDRD9

3-0018-000

chr14:
104454587-104454587

T

C

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
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