Variant Results

or

or

Results for "DOPEY1"

Variant Events: 14

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

DOPEY1

21762-34808

chr6:
83872513-83872513

C

T

exonic

Inherited

stopgain

NM_001199942
NM_015018

c.C6940T
c.C6967T

p.R2314X
p.R2323X

49.0

-

Callaghan2019 G

DOPEY1

SP0200203

chr6:
83847443-83847443

G

A

exonic

De novo

nonsynonymous SNV

NM_001199942
NM_015018

c.G3655A
c.G3682A

p.V1219M
p.V1228M

4.342

-

Trost2022 G
Zhou2022 GE

DOPEY1

SP0148319

chr6:
83877617-83877617

G

A

exonic

De novo

nonsynonymous SNV

NM_015018
NM_001199942

c.G7129A
c.G7162A

p.G2377S
p.G2388S

0.016

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

DOPEY1

546-04-102066

chr6:
83810458-83810458

C

A

exonic

De novo

nonsynonymous SNV

NM_001199942
NM_015018

c.C173A
c.C173A

p.P58H
p.P58H

27.7

-

Fu2022 E

DOPEY1

SP0043626

chr6:
83818719-83818719

T

G

exonic

De novo

synonymous SNV

NM_001199942
NM_015018

c.T411G
c.T411G

p.G137G
p.G137G

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DOPEY1

2-1431-003

chr6:
83863481-83863481

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DOPEY1

SP0068589

chr6:
83842099-83842105

CACACAA

C

intronic

De novo

-

Trost2022 G

DOPEY1

3-0476-000

chr6:
83779332-83779333

TA

T

intronic

De novo

-

-

Trost2022 G

DOPEY1

REACH000681

chr6:
83815426-83815426

T

C

intronic

De novo

-

-

Trost2022 G

DOPEY1

Shi2013:2

chr6:
83877729-83877729

G

A

exonic

Inherited

nonsynonymous SNV

NM_015018
NM_001199942

c.G7241A
c.G7274A

p.R2414Q
p.R2425Q

17.42

Shi2013 G

DOPEY1

Shi2013:1

chr6:
83877729-83877729

G

A

exonic

Inherited

nonsynonymous SNV

NM_015018
NM_001199942

c.G7241A
c.G7274A

p.R2414Q
p.R2425Q

17.42

Shi2013 G

DOPEY1

5-0146-003

chr6:
83873907-83873907

A

G

intronic

De novo

-

-

Trost2022 G
Trost2022 G
Yuen2017 G

DOPEY1

Wang2023:283

chr6:
83834482-83834482

T

A

exonic

De novo

nonsynonymous SNV

NM_001199942
NM_015018

c.T1372A
c.T1399A

p.L458I
p.L467I

10.91

-

Wang2023 E

DOPEY1

7-0255-003

chr6:
83779641-83779641

G

C

intronic

De novo

-

-

Trost2022 G
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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