Variant Results

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Results for "EVC2"

Variant Events: 20

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

EVC2

14088.p1

chr4:
5627591-5627591

C

A

exonic

Mosaic

nonsynonymous SNV

NM_001166136
NM_147127

c.G1691T
c.G1931T

p.R564L
p.R644L

22.9

-

Dou2017 E

EVC2

SP0009287

chr4:
5586394-5586394

G

C

exonic

De novo

nonsynonymous SNV

NM_001166136
NM_147127

c.C2773G
c.C3013G

p.L925V
p.L1005V

13.17

-

Feliciano2019 E
Fu2022 E

EVC2

2-0143-004

chr4:
5591015-5591015

T

A

intronic

De novo

-

-

Yuen2017 G

EVC2

3-0430-000

chr4:
5590292-5590292

T

G

intronic

De novo

-

-

Yuen2016 G

EVC2

14590.p1

chr4:
5691139-5691139

G

A

intronic

De novo

-

-

Turner2016 G

EVC2

13191.p1

chr4:
5687134-5687134

T

C

exonic

De novo

nonsynonymous SNV

NM_001166136
NM_147127

c.A539G
c.A779G

p.K180R
p.K260R

9.742

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

EVC2

A9

chr4:
5633569-5633573

AATTC

A

exonic

De novo

frameshift deletion

NM_001166136
NM_147127

c.1417_1420del
c.1657_1660del

p.E473fs
p.E553fs

-

-

Wu2018 G

EVC2

iHART1461

chr4:
5630381-5630381

A

C

exonic

Paternal

stopgain

NM_001166136
NM_147127

c.T1551G
c.T1791G

p.Y517X
p.Y597X

45.0

-

Ruzzo2019 G

EVC2

A12011-1

chr4:
5633568-5633569

CA

C

exonic

Unknown

stopgain

NM_001166136
NM_147127

c.1421delT
c.1661delT

p.L474X
p.L554X

-

-

Li2017 T

EVC2

iHART1462

chr4:
5630381-5630381

A

C

exonic

Paternal

stopgain

NM_001166136
NM_147127

c.T1551G
c.T1791G

p.Y517X
p.Y597X

45.0

-

Ruzzo2019 G

EVC2

SP0069673

chr4:
5664895-5664895

C

T

exonic

De novo

nonsynonymous SNV

NM_001166136
NM_147127

c.G844A
c.G1084A

p.D282N
p.D362N

17.81

Fu2022 E

EVC2

SSC07302

chr4:
5687134-5687134

T

C

exonic

De novo

nonsynonymous SNV

NM_001166136
NM_147127

c.A539G
c.A779G

p.K180R
p.K260R

9.742

-

Fu2022 E
Lim2017 E

EVC2

A12011-1

chr4:
5633571-5633573

TTC

T

exonic

Unknown

frameshift deletion

NM_001166136
NM_147127

c.1417_1418del
c.1657_1658del

p.E473fs
p.E553fs

-

-

Li2017 T

EVC2

AU2089302

chr4:
5687461-5687461

G

C

intronic

De novo

-

-

Yuen2017 G

EVC2

AU4412302

chr4:
5701476-5701476

G

A

intronic

De novo

-

-

Yuen2017 G

EVC2

AU062204

chr4:
5596809-5596809

G

C

intronic

De novo

-

-

Yuen2017 G

EVC2

1-0534-004

chr4:
5659032-5659032

G

A

intronic

De novo

-

-

Yuen2017 G

EVC2

2-0045-003

chr4:
5576169-5576169

C

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

EVC2

1-0568-003

chr4:
5655287-5655287

G

A

intronic

De novo

-

-

Yuen2017 G

EVC2

09C83621

chr4:
5664988-5664988

C

T

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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