Variant Results

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Results for "TBX15"

Variant Events: 16

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

TBX15

AU4433301

chr1:
119548996-119548996

A

G

intergenic

De novo

-

-

Yuen2017 G

TBX15

AU2075302

chr1:
119452421-119452421

G

C

intronic

De novo

-

-

Yuen2017 G

TBX15

SP0042377

chr1:
119427696-119427696

A

C

exonic

De novo

nonsynonymous SNV

NM_152380

c.T1150G

p.S384A

13.9

Fu2022 E

TBX15

1-0445-003

chr1:
119433424-119433424

A

C

intronic

De novo

-

-

Yuen2017 G

TBX15

1-0469-005

chr1:
119483211-119483211

G

T

intronic

De novo

-

-

Yuen2017 G

TBX15

2-0142-003

chr1:
119559090-119559090

C

A

intergenic

De novo

-

-

Yuen2017 G

TBX15

1-0487-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

TBX15

AU1742302

chr1:
119550748-119550748

G

A

intergenic

De novo

-

-

Yuen2017 G

TBX15

11225.p1

chr1:
119499045-119499046

AC

TA

intronic

Maternal

-

-

Wilfert2021 G

TBX15

2-1696-003

chr1:
119543735-119543735

G

C

intergenic

De novo

-

-

Yuen2017 G

TBX15

3-0140-000

chr1:
119454587-119454587

T

C

intronic

De novo

-

-

Yuen2017 G

TBX15

1-0593-003

chr1:
119558722-119558722

T

C

intergenic

De novo

-

-

Yuen2017 G

TBX15

1-0191-004

chr1:
119559090-119559090

C

A

intergenic

De novo

-

-

Yuen2017 G

TBX15

AU4269301

chr1:
119494687-119494687

C

T

intronic

De novo

-

-

Yuen2017 G

TBX15

1-0552-003

chr1:
119547466-119547479

CTGTGTGTGTGTGT

CTGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

TBX15

2-1408-004

chr1:
119447834-119447834

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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