Variant Results

or

or

Results for "THNSL2"

Variant Events: 21

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

THNSL2

AU056804

chr2:
88715580-88715580

G

C

intergenic

De novo

-

-

Yuen2017 G

THNSL2

AU2029303

chr2:
88595923-88595923

A

C

intergenic

De novo

-

-

Yuen2017 G

THNSL2

1-0259-005

chr2:
88600774-88600774

A

G

intergenic

De novo

-

-

Yuen2017 G

THNSL2

7-0273-003

chr2:
88657628-88657628

A

G

intergenic

De novo

-

-

Yuen2017 G

THNSL2

AU2029302

chr2:
88595923-88595923

A

C

intergenic

De novo

-

-

Yuen2017 G

THNSL2

G01_GEA503HI

chr2:
88472501-88472501

T

G

intronic

De novo

-

-

Fu2022 E

THNSL2

2-1105-003

chr2:
88692009-88692009

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

THNSL2

2-1409-003

chr2:
88579410-88579410

C

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

THNSL2

AU066404

chr2:
88704010-88704015

GAAAAA

GA

intergenic

De novo

-

-

Yuen2017 G

THNSL2

11206.p1

chr2:
88482261-88482261

C

T

exonic

De novo

synonymous SNV

NM_001244678
NM_018271
NM_001244676

c.C372T
c.C846T
c.C846T

p.V124V
p.V282V
p.V282V

-

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

THNSL2

1-0494-003

chr2:
88553251-88553251

G

A

intergenic

De novo

-

-

Yuen2017 G

THNSL2

1-0494-003A

chr2:
88553251-88553251

G

A

intergenic

De novo

-

-

Yuen2017 G

THNSL2

AU2787302

chr2:
88501407-88501407

A

T

intergenic

De novo

-

-

Yuen2017 G

THNSL2

11206_p1

chr2:
88482261-88482261

C

T

exonic

De novo

synonymous SNV

NM_001244678
NM_018271
NM_001244676

c.C372T
c.C846T
c.C846T

p.V124V
p.V282V
p.V282V

-

-

Fu2022 E

THNSL2

SP0030323

chr2:
88478519-88478519

C

G

exonic

De novo

synonymous SNV

NM_001244678
NM_018271
NM_001244676

c.C315G
c.C789G
c.C789G

p.A105A
p.A263A
p.A263A

-

-

Fu2022 E

THNSL2

1-0126-003

chr2:
88541128-88541129

CA

C

intergenic

De novo

-

-

Yuen2017 G

THNSL2

SP0087448

chr2:
88485435-88485435

C

T

exonic

De novo

nonsynonymous SNV

NM_001244678

c.C622T

p.R208C

13.38

-

Fu2022 E

THNSL2

2-1455-003

chr2:
88642118-88642118

A

C

intergenic

De novo

-

-

Yuen2017 G

THNSL2

7-0175-003

chr2:
88566151-88566151

G

A

intergenic

De novo

-

-

Yuen2017 G

THNSL2

2-0126-004

chr2:
88705353-88705353

A

AC

intergenic

De novo

-

-

Yuen2017 G

THNSL2

AU2787302

chr2:
88501405-88501405

A

C

intergenic

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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