Variant Results

or

Results for "ELAVL3"

Variant Events: 11

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

ELAVL3

14328.p1

chr19:
11569032-11569032

A

G

exonic

De novo

nonsynonymous SNV

NM_001420
NM_032281

c.T557C
c.T557C

p.L186P
p.L186P

18.85

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ELAVL3

68608

chr19:
11577075-11577075

T

A

exonic

De novo

nonsynonymous SNV

NM_001420
NM_032281

c.A245T
c.A245T

p.Y82F
p.Y82F

23.2

-

Fu2022 E
Trost2022 G

ELAVL3

11544.p1

chr19:
11577075-11577075

T

A

exonic

De novo

nonsynonymous SNV

NM_001420
NM_032281

c.A245T
c.A245T

p.Y82F
p.Y82F

23.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

ELAVL3

C207003

chr19:
11577513-11577513

G

A

exonic

De novo

nonsynonymous SNV

NM_001420
NM_032281

c.C139T
c.C139T

p.P47S
p.P47S

28.6

-

Fu2022 E

ELAVL3

SSC11405

chr19:
11569032-11569032

A

G

exonic

nonsynonymous SNV

NM_001420
NM_032281

c.T557C
c.T557C

p.L186P
p.L186P

18.85

-

Antaki2022 GE

ELAVL3

Lim2017:68608

chr19:
11577075-11577075

T

A

exonic

De novo

nonsynonymous SNV

NM_001420
NM_032281

c.A245T
c.A245T

p.Y82F
p.Y82F

23.2

-

Lim2017 E

ELAVL3

SSC00962

chr19:
11577075-11577075

T

A

exonic

nonsynonymous SNV

NM_001420
NM_032281

c.A245T
c.A245T

p.Y82F
p.Y82F

23.2

-

Antaki2022 GE

ELAVL3

EGAN00001101026

chr19:
11565336-11565336

T

G

UTR3

De novo

-

2.0E-4

Satterstrom2020 E
Trost2022 G

ELAVL3

SP0037251

chr19:
11565437-11565437

G

A

exonic

De novo

synonymous SNV

NM_001420
NM_032281

c.C1008T
c.C987T

p.D336D
p.D329D

-

8.254E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

ELAVL3

SSC03419

chr19:
11576905-11576909

GGGGC

G

intronic

De novo

-

Trost2022 G

ELAVL3

11622.p1

chr19:
11576905-11576909

GGGGC

G

intronic

De novo

-

Dong2014 E
Kosmicki2017 E
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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