Variant Results

or

or

Results for "EVA1A"

Variant Events: 16

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

EVA1A

1-0006-003

chr2:
75840125-75840125

C

T

intergenic

De novo

-

-

Yuen2017 G

EVA1A

AU3076302

chr2:
75828652-75828652

C

T

intergenic

De novo

-

-

Yuen2017 G

EVA1A

1-0336-003

chr2:
75726460-75726460

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EVA1A

SP0055701

chr2:
75720299-75720299

C

T

UTR3

De novo

-

-

Fu2022 E
Trost2022 G

EVA1A

AU045514

chr2:
75812210-75812210

G

A

intergenic

De novo

-

-

Yuen2017 G

EVA1A

MSSNG00099-003

chr2:
75718937-75718937

A

C

downstream

De novo

-

-

Trost2022 G

EVA1A

AU4067301

chr2:
75725038-75725038

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EVA1A

111308

chr2:
75720435-75720435

C

T

exonic

nonsynonymous SNV

NM_001135032
NM_032181

c.G386A
c.G386A

p.R129H
p.R129H

33.0

-

Woodbury-Smith2022 E

EVA1A

74-0355

chr2:
75732066-75732066

G

A

intronic

De novo

-

-

Michaelson2012 G

EVA1A

1-0150-004

chr2:
75854340-75854340

C

T

intergenic

De novo

-

-

Yuen2017 G

EVA1A

1-0864-003

chr2:
75770208-75770208

C

T

intronic

De novo

-

-

Trost2022 G

EVA1A

AU3052301

chr2:
75830336-75830336

C

A

intergenic

De novo

-

-

Yuen2017 G

EVA1A

2-0068-003

chr2:
75747266-75747266

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EVA1A

3-0742-000

chr2:
75750526-75750526

C

T

intronic

De novo

-

-

Trost2022 G

EVA1A

SP0141055

chr2:
75720619-75720619

C

T

exonic

De novo

nonsynonymous SNV

NM_001135032
NM_032181

c.G202A
c.G202A

p.G68R
p.G68R

0.307

-

Trost2022 G

EVA1A

REACH000727

chr2:
75746729-75746729

G

A

intronic

De novo

-

-

Trost2022 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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