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Results for "DRD2"

Variant Events: 22

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
DRD2     1-0565-004chr11:
113290200-113290200
GAintronicDe novo--Trost2022 G
Yuen2017 G
DRD2     5-5038-003chr11:
113290505-113290505
CTintronicDe novo--Trost2022 G
DRD2     2-1577-003chr11:
113325799-113325799
GAintronicDe novo--Trost2022 G
Yuen2017 G
DRD2     AU060803chr11:
113447386-113447386
GAintergenicDe novo--Yuen2017 G
DRD2     13298.p1chr11:
113386473-113386473
GAintergenicDe novo--Turner2016 G
DRD2     1-0414-005chr11:
113422729-113422729
AGintergenicDe novo--Yuen2017 G
DRD2     AU017704chr11:
113297797-113297797
TCintronicDe novo--Trost2022 G
Yuen2017 G
DRD2     1-0352-003chr11:
113505151-113505153
ACTAintergenicDe novo--Yuen2016 G
DRD2     SP0035157chr11:
113287705-113287705
TCexonicDe novononsynonymous SNVNM_000795
NM_016574
c.A412G
c.A412G
p.M138V
p.M138V
20.38.559E-6Fu2022 E
Trost2022 G
Zhou2022 GE
DRD2     SP0105917chr11:
113287669-113287669
GAexonicDe novononsynonymous SNVNM_000795
NM_016574
c.C448T
c.C448T
p.R150C
p.R150C
25.31.689E-5Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
DRD2     1-0473-003chr11:
113334834-113334834
GAintronicDe novo--Trost2022 G
Yuen2017 G
DRD2     2-1477-003chr11:
113552885-113552885
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
DRD2     1-0435-003chr11:
113390261-113390261
CTintergenicDe novo--Yuen2017 G
DRD2     2-1246-003chr11:
113419168-113419168
GAintergenicDe novo--Yuen2017 G
DRD2     1-0352-005chr11:
113505151-113505155
ACTCTACTintergenicDe novo--Yuen2017 G
DRD2     AU060703chr11:
113374453-113374453
TCintergenicDe novo--Yuen2017 G
DRD2     4-0061-003chr11:
113281520-113281520
CTexonicDe novononsynonymous SNVNM_016574
NM_000795
c.G1174A
c.G1261A
p.V392M
p.V421M
19.55-Trost2022 G
Zhou2022 GE
DRD2     ASC_NP270chr11:
113287642-113287642
CTexonicDe novononsynonymous SNVNM_000795
NM_016574
c.G475A
c.G475A
p.V159I
p.V159I
32.0-Fu2022 E
DRD2     1-0699-003chr11:
113323827-113323827
TAintronicDe novo--Trost2022 G
Yuen2017 G
DRD2     ASC_142560chr11:
113281661-113281661
TTTCAAGGCAGGGACTAGintronicDe novo--Satterstrom2020 E
Trost2022 G
DRD2     AU056604chr11:
113526009-113526009
GCintergenicDe novo--Yuen2017 G
DRD2     AU3724301chr11:
113344797-113344797
GAintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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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 notesView
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