Variant Results

or

or

Results for "CLIP2"

Variant Events: 24

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

CLIP2

SSC10599

chr7:
73731913-73731913

G

T

exonic

De novo

nonsynonymous SNV

NM_003388
NM_032421

c.G37T
c.G37T

p.G13W
p.G13W

17.36

Fu2022 E
Lim2017 E
Trost2022 G

CLIP2

1-0455-004

chr7:
73765207-73765207

A

AAAGAAAAAGAAGGGAAGGGAAGGAAGGGAAGAAG

intronic

De novo

-

-

Yuen2017 G

CLIP2

SP0106496

chr7:
73787286-73787286

C

T

exonic

De novo

nonsynonymous SNV

NM_003388

c.C1405T

p.R469C

19.01

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CLIP2

SP0007102

chr7:
73731910-73731910

C

T

exonic

De novo

nonsynonymous SNV

NM_003388
NM_032421

c.C34T
c.C34T

p.R12C
p.R12C

19.57

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

CLIP2

SP0069459

chr7:
73811586-73811586

A

T

intronic

De novo

-

-

Trost2022 G

CLIP2

SP0051285

chr7:
73811592-73811592

A

T

intronic

De novo

-

-

Trost2022 G

CLIP2

AU3610302

chr7:
73754594-73754594

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CLIP2

5-5237-003

chr7:
73775556-73775556

T

C

intronic

De novo

-

-

Trost2022 G

CLIP2

2-1567-003

chr7:
73828972-73828972

C

G

intergenic

De novo

-

-

Yuen2017 G

CLIP2

3-0398-000

chr7:
73799134-73799134

T

G

intronic

De novo

-

-

Trost2022 G

CLIP2

AU4487302

chr7:
73832428-73832428

T

C

intergenic

De novo

-

-

Yuen2017 G

CLIP2

MSSNG00338-004

chr7:
73723289-73723289

C

T

intronic

De novo

-

-

Trost2022 G

CLIP2

13618.p1

chr7:
73790765-73790765

C

T

exonic

De novo

synonymous SNV

NM_032421
NM_003388

c.C1929T
c.C2034T

p.H643H
p.H678H

-

Krumm2015 E
Zhou2022 GE

CLIP2

5-0009-003

chr7:
73764022-73764022

G

A

intronic

De novo

-

-

Trost2022 G

CLIP2

AU2571301

chr7:
73711489-73711489

T

C

intronic

De novo

-

-

Trost2022 G

CLIP2

14101.p1

chr7:
73731913-73731913

G

T

exonic

De novo

nonsynonymous SNV

NM_003388
NM_032421

c.G37T
c.G37T

p.G13W
p.G13W

17.36

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

CLIP2

11341.p1

chr7:
73774357-73774357

A

G

intronic

De novo

-

-

Turner2016 G

CLIP2

13515.p1

chr7:
73842865-73842865

C

G

intergenic

De novo

-

-

Turner2016 G

CLIP2

AU3343301

chr7:
73854854-73854854

G

T

intergenic

De novo

-

-

Yuen2017 G

CLIP2

1-0358-003

chr7:
73771303-73771303

C

A

intronic

De novo

-

-

Yuen2017 G

CLIP2

13515.p1

chr7:
73842881-73842881

T

C

intergenic

De novo

-

-

Turner2016 G

CLIP2

13515.p1

chr7:
73842872-73842872

G

A

intergenic

De novo

-

-

Turner2016 G

CLIP2

SP0246899

chr7:
73814758-73814758

C

T

exonic

De novo

nonsynonymous SNV

NM_032421
NM_003388

c.C2834T
c.C2939T

p.A945V
p.A980V

9.548

Trost2022 G

CLIP2

13515.p1

chr7:
73842878-73842878

A

G

intergenic

De novo

-

-

Turner2016 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
	More