Variant Results

or

Results for "ELAVL2"

Variant Events: 71

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

ELAVL2

2-1619-004

chr9:
24428429-24428429

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

SSC10673

chr9:
23692707-23692714

CACGGATG

C

exonic

frameshift deletion

NM_001171195
NM_001171197
NM_004432

c.882_888del
c.882_888del
c.921_927del

p.V294fs
p.V294fs
p.V307fs

-

Antaki2022 GE

ELAVL2

7-0140-003

chr9:
24184243-24184243

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

3-0065-000

chr9:
23793213-23793213

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

1-0141-003

chr9:
24483873-24483873

A

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU2485305

chr9:
23698762-23698762

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

7-0174-003

chr9:
24000629-24000629

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

1-0906-003

chr9:
23760097-23760097

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

1-0272-003

chr9:
23734024-23734024

A

ATGAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

AU4056301

chr9:
24019760-24019760

T

C

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4056301

chr9:
24336689-24336689

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU3885305

chr9:
24391835-24391835

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1451-003

chr9:
23891866-23891866

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

MSSNG00337-003

chr9:
23758720-23758720

A

C

intronic

De novo

-

Trost2022 G

ELAVL2

1031

chr9:
23772708-23772708

C

T

intronic

De novo

-

Trost2022 G

ELAVL2

MSSNG00124-003

chr9:
23732018-23732018

G

C

intronic

De novo

-

Trost2022 G

ELAVL2

4-0002-003

chr9:
23736293-23736293

A

G

intronic

De novo

-

Trost2022 G

ELAVL2

1-0990-003

chr9:
24151253-24151253

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

3-0161-000

chr9:
23709274-23709274

T

C

intronic

De novo

-

Trost2022 G

ELAVL2

AU2156303

chr9:
23816452-23816452

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

3-0476-000

chr9:
23725441-23725441

T

G

intronic

De novo

-

Trost2022 G

ELAVL2

3-0482-000

chr9:
24242901-24242901

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1174-006

chr9:
23936737-23936737

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

5-0009-003

chr9:
23823113-23823113

T

A

intronic

De novo

-

Trost2022 G

ELAVL2

7-0240-003

chr9:
23824934-23824934

C

G

intronic

De novo

-

Trost2022 G

ELAVL2

7-0274-003

chr9:
23803033-23803033

T

C

intronic

De novo

-

Trost2022 G

ELAVL2

2-0139-004

chr9:
23807556-23807556

C

G

intronic

De novo

-

Trost2022 G

ELAVL2

C9C2C_01

chr9:
23786804-23786804

G

A

intronic

De novo

-

Trost2022 G

ELAVL2

C9C2C_01

chr9:
23786806-23786806

G

A

intronic

De novo

-

Trost2022 G

ELAVL2

1-0551-004

chr9:
24380305-24380305

T

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU1355301

chr9:
24005706-24005706

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU3790301

chr9:
24052129-24052129

T

C

intergenic

De novo

-

Yuen2017 G

ELAVL2

3-0140-000

chr9:
24180059-24180059

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1177-003

chr9:
23935847-23935848

AT

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ELAVL2

7-0191-003

chr9:
24134036-24134036

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

7-0179-003

chr9:
24001116-24001130

GGTGTGTGTGTGTGT

GGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU003405

chr9:
24523194-24523194

G

C

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU2777302

chr9:
23922734-23922734

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

1-0534-006

chr9:
23818966-23818966

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

1-0271-003

chr9:
23876269-23876269

G

GTAGTATTCCAGGGTTTGT

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1475-003

chr9:
23723147-23723147

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

7-0197-003

chr9:
24338839-24338839

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

14248.p1

chr9:
23692707-23692714

CACGGATG

C

exonic

De novo

frameshift deletion

NM_001171195
NM_001171197
NM_004432

c.882_888del
c.882_888del
c.921_927del

p.V294fs
p.V294fs
p.V307fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ELAVL2

1-0896-003

chr9:
24521972-24521972

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4093301

chr9:
23904441-23904451

AGTCCCCTTGT

AGT

intergenic

De novo

-

Yuen2017 G

ELAVL2

7-0141-003

chr9:
24403288-24403288

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4410302

chr9:
23862537-23862537

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU0638302

chr9:
24495264-24495264

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4033304

chr9:
24353253-24353253

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

7-0247-003

chr9:
23724096-23724096

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

1-0994-003

chr9:
24001116-24001130

GGTGTGTGTGTGTGT

GGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1456-003

chr9:
24238267-24238271

ATAGT

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1629-003

chr9:
23943576-23943576

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

36058

chr9:
23692707-23692714

CACGGATG

C

exonic

De novo

frameshift deletion

NM_001171195
NM_001171197
NM_004432

c.882_888del
c.882_888del
c.921_927del

p.V294fs
p.V294fs
p.V307fs

-

Fu2022 E
Trost2022 G

ELAVL2

1-0142-005

chr9:
24522411-24522411

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4269301

chr9:
24019005-24019005

C

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU012803

chr9:
24252276-24252276

T

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

1-0272-004

chr9:
23734024-23734024

A

ATGAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

2-1702-004

chr9:
24198249-24198249

G

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU2427301

chr9:
24490699-24490699

T

C

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1357-004

chr9:
24201915-24201915

G

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

1-0582-003

chr9:
24010990-24010990

C

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

SP0061230

chr9:
23692685-23692685

T

G

exonic

De novo

nonsynonymous SNV

NM_001171195
NM_001171197
NM_004432

c.A911C
c.A911C
c.A950C

p.K304T
p.K304T
p.K317T

13.23

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ELAVL2

2-0129-005

chr9:
23769726-23769726

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ELAVL2

AU1987304

chr9:
24283400-24283400

A

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU4060306

chr9:
24503768-24503768

C

T

intergenic

De novo

-

Yuen2017 G

ELAVL2

2-1529-003

chr9:
24502928-24502928

T

A

intergenic

De novo

-

Yuen2017 G

ELAVL2

AU072505

chr9:
24186065-24186065

A

G

intergenic

De novo

-

Yuen2017 G

ELAVL2

7-0103-003

chr9:
23825503-23825503

T

G

intronic

De novo

-

Yuen2017 G

ELAVL2

2-1129-003

chr9:
24239130-24239130

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

ELAVL2

AU072504

chr9:
23874120-23874120

C

G

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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