Variant Results

or

Results for "TLN2"

Variant Events: 38

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

TLN2

1-0555-003

chr15:
62968623-62968623

G

A

intronic

De novo

-

Yuen2017 G

TLN2

2-1629-003

chr15:
63104041-63104041

C

T

intronic

De novo

-

Yuen2017 G

TLN2

AU3397302

chr15:
63143477-63143477

G

A

intergenic

De novo

-

Yuen2017 G

TLN2

1-0271-004

chr15:
63114725-63114725

G

A

intronic

De novo

-

Yuen2017 G

TLN2

2-1153-003

chr15:
63205403-63205403

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TLN2

AU3874302

chr15:
63028664-63028668

GACTT

GACTTACTT

intronic

De novo

-

Yuen2017 G

TLN2

iHART3220

chr15:
63128130-63128130

C

T

exonic

De novo

nonsynonymous SNV

NM_015059

c.C7232T

p.A2411V

32.0

-

Ruzzo2019 G

TLN2

2-1215-003

chr15:
63328520-63328529

CAGAAACTTG

C

intergenic

De novo

-

Yuen2017 G

TLN2

1-0706-003

chr15:
63131098-63131098

G

T

exonic

De novo

nonsynonymous SNV

NM_015059

c.G7418T

p.R2473L

23.5

8.237E-6

Yuen2017 G

TLN2

2-1290-004

chr15:
63238150-63238150

T

C

intergenic

De novo

-

Yuen2017 G

TLN2

AU3903302

chr15:
63128130-63128130

C

T

exonic

De novo

nonsynonymous SNV

NM_015059

c.C7232T

p.A2411V

32.0

-

Yuen2017 G

TLN2

2-0057-004

chr15:
62946287-62946287

A

G

intronic

De novo

-

Yuen2017 G

TLN2

AU2292302

chr15:
62952141-62952141

G

A

intronic

De novo

-

Yuen2017 G

TLN2

AU3648301

chr15:
63112844-63112844

A

G

intronic

De novo

-

8.508E-6

Yuen2017 G

TLN2

AU2292301

chr15:
62952141-62952141

G

A

intronic

De novo

-

Yuen2017 G

TLN2

2-1605-003

chr15:
63232686-63232686

G

T

intergenic

De novo

-

Yuen2017 G

TLN2

DEASD_0337_001

chr15:
63089511-63089511

G

A

exonic

De novo

synonymous SNV

NM_015059

c.G6144A

p.A2048A

-

3.331E-5

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

TLN2

1-0383-003

chr15:
62962954-62962954

C

T

intronic

De novo

-

Yuen2017 G

TLN2

AU4079302

chr15:
63031947-63031947

G

A

intronic

De novo

-

Yuen2017 G

TLN2

1-0609-003

chr15:
63141372-63141374

GAT

GATAT

intergenic

De novo

-

Yuen2017 G

TLN2

AU3720302

chr15:
63257123-63257123

T

G

intergenic

De novo

-

Yuen2017 G

TLN2

09C79752

chr15:
63111781-63111781

G

A

exonic

De novo

nonsynonymous SNV

NM_015059

c.G6838A

p.A2280T

12.47

2.0E-4

Satterstrom2020 E

TLN2

2-0270-003

chr15:
63112519-63112519

C

T

intronic

De novo

-

Yuen2017 G

TLN2

1-0533-003

chr15:
63066810-63066810

G

A

intronic

De novo

-

Yuen2017 G

TLN2

AU2458302

chr15:
63012426-63012428

TCC

TC

intronic

De novo

-

Yuen2017 G

TLN2

12449.p1

chr15:
63263805-63263805

G

A

intergenic

De novo

-

Turner2016 G

TLN2

2-1329-003

chr15:
63290042-63290042

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TLN2

2-1188-003

chr15:
62999776-62999776

A

G

intronic

De novo

-

Yuen2017 G

TLN2

2-1329-003

chr15:
63299909-63299909

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TLN2

G01-GEA-100-HI

chr15:
63000771-63000771

G

A

exonic

De novo

nonsynonymous SNV

NM_015059

c.G2243A

p.R748H

21.9

-

Lim2017 E
Satterstrom2020 E

TLN2

048-05-102699

chr15:
63055814-63055814

C

T

exonic

De novo

nonsynonymous SNV

NM_015059

c.C5014T

p.R1672W

16.94

8.408E-6

Satterstrom2020 E

TLN2

12498.p1

chr15:
62947291-62947291

T

A

intronic

De novo

-

Turner2016 G

TLN2

14448.p1

chr15:
62948224-62948230

TTTACTC

T

exonic

De novo

nonframeshift deletion

NM_015059

c.600_605del

p.200_202del

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

TLN2

AU4079301

chr15:
63261455-63261455

T

C

intergenic

De novo

-

Yuen2017 G

TLN2

2-1329-003

chr15:
63300517-63300517

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TLN2

5-0116-003

chr15:
63190179-63190179

G

T

intergenic

De novo

-

Yuen2017 G

TLN2

AU4028302

chr15:
63176494-63176494

A

T

intergenic

De novo

-

Yuen2017 G

TLN2

2-0043-003

chr15:
63219880-63219880

C

G

intergenic

De novo

-

Yuen2016 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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