Variant Results

or

Results for "ERC2"

Variant Events: 46

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

ERC2

1-0458-005

chr3:
56468640-56468640

G

A

exonic

De novo

synonymous SNV

NM_015576

c.C396T

p.H132H

-

Yuen2015 G
Yuen2017 G

ERC2

1-0299-003

chr3:
55754024-55754024

C

CT

intronic

De novo

-

Yuen2017 G

ERC2

1-0882-003

chr3:
56052950-56052950

G

A

exonic

De novo

nonsynonymous SNV

NM_015576

c.C1751T

p.A584V

13.84

2.497E-5

Yuen2017 G

ERC2

1-0389-004

chr3:
55890102-55890102

G

T

intronic

De novo

-

Yuen2017 G

ERC2

1-0606-003

chr3:
55864933-55864933

C

A

intronic

De novo

-

Yuen2017 G

ERC2

1-0627-003

chr3:
55659171-55659171

G

A

intronic

De novo

-

Yuen2017 G

ERC2

1-0404-003

chr3:
55884850-55884850

C

G

intronic

De novo

-

Yuen2017 G

ERC2

2-1093-005

chr3:
55922711-55922711

C

T

intronic

De novo

-

Yuen2017 G

ERC2

13069.p1

chr3:
55719630-55719630

A

AG

intronic

De novo

-

Werling2018 G

ERC2

1-0715-003

chr3:
56548208-56548208

T

C

intergenic

De novo

-

Yuen2017 G

ERC2

2-1429-004

chr3:
56206560-56206560

C

A

intronic

De novo

-

Yuen2017 G

ERC2

2-1522-003

chr3:
55753844-55753844

C

T

intronic

De novo

-

Yuen2017 G

ERC2

1-0985-003

chr3:
56032268-56032280

TTCTCTCTCTCTC

TTCTCTCTCTC

intronic

De novo

-

Yuen2017 G

ERC2

2-0210-005

chr3:
55656071-55656071

G

A

intronic

De novo

-

Yuen2017 G

ERC2

AU3692301

chr3:
56585858-56585858

T

C

intergenic

De novo

-

Yuen2017 G

ERC2

AU3858302

chr3:
56478526-56478528

TGG

TG

intronic

De novo

-

Yuen2017 G

ERC2

2-0300-004

chr3:
56055658-56055658

C

T

intronic

De novo

-

Yuen2017 G

ERC2

1-0568-003

chr3:
56144911-56144911

G

T

intronic

De novo

-

Yuen2017 G

ERC2

5-0111-003

chr3:
56543916-56543916

C

T

intergenic

De novo

-

Yuen2017 G

ERC2

1-0022-004

chr3:
56109083-56109083

G

C

intronic

De novo

-

Yuen2017 G

ERC2

AU002405

chr3:
55584773-55584773

A

G

intronic

De novo

-

Yuen2017 G

ERC2

AU3808304

chr3:
56544634-56544634

A

G

intergenic

De novo

-

Yuen2017 G

ERC2

1-0671-003

chr3:
55650377-55650377

G

A

intronic

De novo

-

Yuen2017 G

ERC2

1-0285-004

chr3:
56528958-56528958

C

T

intergenic

De novo

-

Yuen2017 G

ERC2

1-0671-003

chr3:
55650196-55650196

G

A

intronic

De novo

-

Yuen2017 G

ERC2

AU3846303

chr3:
56526174-56526174

C

T

intergenic

De novo

-

Yuen2017 G

ERC2

1-0022-003

chr3:
56109083-56109083

G

C

intronic

De novo

-

Yuen2016 G

ERC2

2-0006-003

chr3:
56262285-56262285

G

A

intronic

De novo

-

Yuen2017 G

ERC2

AU4314302

chr3:
56566626-56566626

C

A

intergenic

De novo

-

Yuen2017 G

ERC2

13539.p1

chr3:
56495570-56495570

G

T

intronic

De novo

-

Turner2016 G

ERC2

AU2117302

chr3:
56193115-56193115

C

A

intronic

De novo

-

Yuen2017 G

ERC2

AU3724301

chr3:
56481697-56481701

CTTTT

CTT

intronic

De novo

-

Yuen2017 G

ERC2

AU3777302

chr3:
55685628-55685628

T

C

intronic

De novo

-

Yuen2017 G

ERC2

1-0139-005

chr3:
55932584-55932584

G

C

intronic

De novo

-

Yuen2017 G

ERC2

2-0149-005

chr3:
56049056-56049056

T

G

intronic

De novo

-

Yuen2017 G

ERC2

AU3865301

chr3:
56439836-56439836

T

C

intronic

De novo

-

Yuen2017 G

ERC2

AU4145301

chr3:
55656426-55656426

T

G

intronic

De novo

-

Yuen2017 G

ERC2

2-0028-003

chr3:
55770181-55770181

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ERC2

1-0636-003

chr3:
56088684-56088684

G

A

intronic

De novo

-

Yuen2017 G

ERC2

2-1255-003

chr3:
55726381-55726381

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ERC2

2-0214-004

chr3:
55809045-55809046

CA

C

intronic

De novo

-

Yuen2017 G

ERC2

7-0161-003

chr3:
56516766-56516766

T

C

intergenic

De novo

-

Yuen2017 G

ERC2

1-0257-003

chr3:
56266051-56266051

T

G

intronic

De novo

-

Yuen2017 G

ERC2

AU3997301

chr3:
56455626-56455626

G

A

intronic

De novo

-

Yuen2017 G

ERC2

2-0300-003

chr3:
56055658-56055658

C

T

intronic

De novo

-

Yuen2017 G

ERC2

2-1620-003

chr3:
56158753-56158753

C

A

intronic

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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