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Results for "PSD4"

Variant Events: 11

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
PSD4     DEASD_0023_001chr2:
113940833-113940833
CTexonicDe novononsynonymous SNVNM_012455c.C800Tp.S267F18.61-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PSD4     14328_p1chr2:
113940160-113940160
CAexonicDe novononsynonymous SNVNM_012455c.C127Ap.P43T7.721-Fu2022 E
PSD4     14328.p1chr2:
113940160-113940160
CAexonicDe novononsynonymous SNVNM_012455c.C127Ap.P43T7.721-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PSD4     1-0835-003chr2:
113946848-113946862
CATATATATATATATCATATATATATATintronicDe novo--Yuen2017 G
PSD4     80001104221chr2:
113953301-113953302
CACsplicingDe novosplicing--Fu2022 E
PSD4     AU4164301chr2:
113931552-113931552
TGupstreamDe novo--Trost2022 G
Yuen2017 G
PSD4     mAGRE4676chr2:
113950845-113950845
CTexonicPaternalstopgainNM_012455c.C1930Tp.Q644X40.0-Cirnigliaro2023 G
PSD4     iHART3237chr2:
113941090-113941090
GAsplicingMaternalsplicing13.68-Ruzzo2019 G
PSD4     mAGRE4370chr2:
113942941-113942941
GAsplicingMaternalsplicing9.6238.245E-6Cirnigliaro2023 G
PSD4     mAGRE3237chr2:
113941090-113941090
GAsplicingMaternalsplicing13.68-Cirnigliaro2023 G
PSD4     7-0441-003chr2:
113953861-113953861
ACexonicDe novononsynonymous SNVNM_012455c.A2363Cp.H788P24.0-Trost2022 G
Zhou2022 GE
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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