Variant Results

or

or

Results for "DRD4"

Variant Events: 15

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

DRD4

SP0015507

chr11:
640071-640071

C

T

exonic

De novo

synonymous SNV

NM_000797

c.C822T

p.C274C

-

-

Trost2022 G

DRD4

SP0080491

chr11:
640110-640110

G

C

exonic

De novo

nonsynonymous SNV

NM_000797

c.G861C

p.Q287H

8.407

-

Trost2022 G

DRD4

SP0078117

chr11:
640071-640071

C

T

exonic

De novo

synonymous SNV

NM_000797

c.C822T

p.C274C

-

-

Trost2022 G

DRD4

SP0078436

chr11:
640071-640071

C

T

exonic

De novo

synonymous SNV

NM_000797

c.C822T

p.C274C

-

-

Trost2022 G

DRD4

SP0078117

chr11:
640065-640065

T

C

exonic

De novo

synonymous SNV

NM_000797

c.T816C

p.G272G

-

-

Trost2022 G

DRD4

SP0078436

chr11:
640065-640065

T

C

exonic

De novo

synonymous SNV

NM_000797

c.T816C

p.G272G

-

-

Trost2022 G

DRD4

SP0012099

chr11:
640042-640042

C

G

exonic

De novo

nonsynonymous SNV

NM_000797

c.C793G

p.P265A

5.628

-

Trost2022 G

DRD4

AU4013301

chr11:
639547-639547

T

G

splicing

Unknown

splicing

20.9

-

Cirnigliaro2023 G

DRD4

SP0075204

chr11:
640117-640117

T

TGTG

exonic

De novo

nonframeshift insertion

NM_000797

c.868_869insGTG

p.C290delinsCG

-

-

Fu2022 E

DRD4

SP0076268

chr11:
640099-640099

A

C

exonic

De novo

nonsynonymous SNV

NM_000797

c.A850C

p.S284R

5.626

-

Fu2022 E

DRD4

PN400259

chr11:
637536-637549

GCCGCCGACCTCCT

G

exonic

Inherited

frameshift deletion

NM_000797

c.233_245del

p.A78fs

-

Leblond2019 E

DRD4

G01-GEA-245-HI

chr11:
640133-640133

C

T

exonic

De novo

nonsynonymous SNV

NM_000797

c.C884T

p.A295V

8.764

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DRD4

iHART3249

chr11:
639547-639547

T

G

splicing

Unknown

splicing

20.9

-

Ruzzo2019 G

DRD4

2-1425-003

chr11:
637409-637409

G

A

exonic

De novo

synonymous SNV

NM_000797

c.G105A

p.A35A

-

-

Trost2022 G
Yuen2015 G

DRD4

1-0144-004

chr11:
642849-642849

G

GAGGGACACAGGA

intergenic

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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