Variant Results

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Results for "TLN1"

Variant Events: 13

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

TLN1

1-0222-003

chr9:
35705541-35705541

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TLN1

SP0048957

chr9:
35725562-35725562

G

A

exonic

De novo

nonsynonymous SNV

NM_006289

c.C130T

p.P44S

15.97

Fu2022 E
Trost2022 G
Zhou2022 GE

TLN1

SP0053676

chr9:
35706785-35706785

G

A

exonic

De novo

nonsynonymous SNV

NM_006289

c.C5068T

p.R1690C

19.13

Fu2022 E
Trost2022 G
Zhou2022 GE

TLN1

SP0144574

chr9:
35707764-35707764

C

T

exonic

De novo

synonymous SNV

NM_006289

c.G4596A

p.V1532V

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TLN1

1-0160-003

chr9:
35704400-35704400

G

A

exonic

De novo

synonymous SNV

NM_006289

c.C5976T

p.L1992L

-

Yuen2015 G
Zhou2022 GE

TLN1

MSSNG00466-003

chr9:
35731299-35731299

T

A

intronic

De novo

-

-

Trost2022 G

TLN1

6244

chr9:
35720762-35720762

A

G

intronic

De novo

-

Trost2022 G

TLN1

Wang2023:353

chr9:
35699374-35699374

G

A

exonic

De novo

stopgain

NM_006289

c.C6853T

p.Q2285X

50.0

-

Wang2023 E

TLN1

3-0052-000

chr9:
35726109-35726109

C

A

intronic

De novo

-

-

Trost2022 G

TLN1

G01-GEA-10-HI

chr9:
35705791-35705791

T

C

exonic

De novo

nonsynonymous SNV

NM_006289

c.A5569G

p.M1857V

11.67

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TLN1

7-0408-003

chr9:
35713567-35713571

GCTAC

G

intronic

De novo

-

-

Trost2022 G

TLN1

7-0408-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

TLN1

11229.p1

chr9:
35720762-35720762

A

G

intronic

De novo

-

Satterstrom2020 E

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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