Variant Results

or

or

Results for "TINAG"

Variant Events: 23

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

TINAG

AU026412

chr6:
54403945-54403945

A

G

intergenic

De novo

-

-

Yuen2017 G

TINAG

AU070703

chr6:
54254931-54254931

C

T

UTR3

De novo

-

-

Yuen2017 G

TINAG

5-0088-003

chr6:
54371234-54371234

G

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

AU1987302

chr6:
54353134-54353134

G

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

1-0010-005

chr6:
54557154-54557166

TATGTACCATGTG

T

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-0208-003

chr6:
54557154-54557166

TATGTACCATGTG

T

intergenic

De novo

-

-

Yuen2017 G

TINAG

1-0259-003

chr6:
54587074-54587074

C

G

intergenic

De novo

-

-

Yuen2017 G

TINAG

02C09535

chr6:
54219267-54219267

A

G

intronic

De novo

-

-

Satterstrom2020 E

TINAG

11012.p1

chr6:
54191686-54191686

C

T

exonic

Mosaic

nonsynonymous SNV

NM_014464

c.C596T

p.P199L

17.46

Dou2017 E

TINAG

2-0208-004

chr6:
54557154-54557166

TATGTACCATGTG

T

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-1629-003

chr6:
54501243-54501243

T

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-1207-003

chr6:
54274814-54274814

C

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-1632-003

chr6:
54608815-54608815

C

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

AU4315302

chr6:
54296781-54296781

T

G

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-0242-005

chr6:
54178865-54178865

G

A

intronic

De novo

-

-

Yuen2017 G

TINAG

2-1265-003

chr6:
54474127-54474127

G

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TINAG

AU031203

chr6:
54176220-54176220

G

T

intronic

De novo

-

-

Yuen2017 G

TINAG

AU3371303

chr6:
54649857-54649857

G

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

1-0994-003

chr6:
54261169-54261169

G

A

intergenic

De novo

-

-

Yuen2017 G

TINAG

2-1338-003

chr6:
54496051-54496051

T

C

intergenic

De novo

-

-

Yuen2017 G

TINAG

AU2793302

chr6:
54538292-54538292

T

G

intergenic

De novo

-

-

Yuen2017 G

TINAG

iHART1662

chr6:
54245361-54245361

A

T

exonic

Paternal

stopgain

NM_014464

c.A1288T

p.K430X

40.0

Ruzzo2019 G

TINAG

2-1522-003

chr6:
54198621-54198621

T

C

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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