Variant Results

or

or

Results for "TDRD5"

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

TDRD5

2-1296-003

chr1:
179686519-179686519

G

C

intergenic

De novo

-

-

Yuen2017 G

TDRD5

09C99485

chr1:
179609178-179609178

G

A

exonic

De novo

synonymous SNV

NM_001199092
NM_001199085
NM_001199089
NM_001199091
NM_173533

c.G390A
c.G1725A
c.G1725A
c.G1725A
c.G1725A

p.R130R
p.R575R
p.R575R
p.R575R
p.R575R

-

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TDRD5

PN400554

chr1:
179561901-179561901

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199085
NM_001199089
NM_001199091
NM_173533

c.C151T
c.C151T
c.C151T
c.C151T

p.R51W
p.R51W
p.R51W
p.R51W

18.18

Leblond2019 E

TDRD5

2-1377-003

chr1:
179575342-179575346

TTCAT

CGGCC

intronic

De novo

-

-

Trost2022 G

TDRD5

1-0271-003

chr1:
179566878-179566878

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

2-1377-003

chr1:
179575334-179575339

AACATC

TTCCTA

intronic

De novo

-

-

Trost2022 G

TDRD5

2-1377-003

chr1:
179575356-179575361

TGCCAT

CCTCCC

intronic

De novo

-

-

Trost2022 G

TDRD5

2-1377-003

chr1:
179575349-179575353

GCTTA

CTTGG

intronic

De novo

-

-

Trost2022 G

TDRD5

1-0139-005

chr1:
179644416-179644416

T

TA

intronic

De novo

-

-

Yuen2017 G

TDRD5

MSSNG00352-004

chr1:
179572146-179572146

A

G

intronic

De novo

-

-

Trost2022 G

TDRD5

1-0075-003

chr1:
179707732-179707732

C

A

intergenic

De novo

-

-

Trost2022 G

TDRD5

7-0346-003

chr1:
179632291-179632291

A

G

intronic

De novo

-

-

Trost2022 G

TDRD5

5-5023-003

chr1:
179595999-179595999

A

G

intronic

De novo

-

-

Trost2022 G

TDRD5

2-0309-005

chr1:
179698131-179698132

TA

T

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

REACH000644

chr1:
179591987-179591987

A

G

intronic

De novo

-

-

Trost2022 G

TDRD5

2-1505-003

chr1:
179685680-179685680

T

TTTTTTA

intergenic

De novo

-

-

Yuen2017 G

TDRD5

AU2579302

chr1:
179631181-179631181

A

G

intronic

De novo

-

-

Trost2022 G

TDRD5

AU2328301

chr1:
179599334-179599334

G

C

intronic

De novo

-

-

Trost2022 G

TDRD5

AU005213

chr1:
179578810-179578810

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

AU0146301

chr1:
179620461-179620461

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

1-0835-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

1-0820-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

PN400530

chr1:
179561901-179561901

C

T

exonic

Unknown

nonsynonymous SNV

NM_001199085
NM_001199089
NM_001199091
NM_173533

c.C151T
c.C151T
c.C151T
c.C151T

p.R51W
p.R51W
p.R51W
p.R51W

18.18

Leblond2019 E

TDRD5

1-0261-004

chr1:
179618550-179618550

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TDRD5

1-0289-004

chr1:
179612730-179612730

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
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