or
or
Exact

Results for "PSD2"

Variant Events: 12

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
PSD2     2-1547-003chr5:
139192306-139192306
CTintronicDe novo--Trost2022 G
PSD2     AU057503chr5:
139202856-139202856
AGintronicDe novo--Trost2022 G
PSD2     L7T2M_01chr5:
139181854-139181854
GAintronicDe novo--Trost2022 G
PSD2     1-1102-003chr5:
139183515-139183515
TAintronicDe novo--Trost2022 G
PSD2     13093.p1chr5:
139219740-139219740
CGexonicMosaicnonsynonymous SNVNM_032289c.C2097Gp.H699Q15.16-Dou2017 E
Krupp2017 E
PSD2     1-1122-003chr5:
139175783-139175783
CTintronicDe novo--Trost2022 G
PSD2     MT_16.3chr5:
139180089-139180089
CTintronicDe novo--Trost2022 G
PSD2     13608.p1chr5:
139194843-139194843
CAintronicMosaic--Dou2017 E
PSD2     111310chr5:
139218278-139218278
CTexonicnonsynonymous SNVNM_032289c.C1889Tp.P630L23.5-Woodbury-Smith2022 E
PSD2     AC02-1234-01chr5:
139202285-139202285
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
PSD2     2-0318-003chr5:
139176470-139176470
GAintronicDe novo--Trost2022 G
Yuen2017 G
PSD2     4-0008-003chr5:
139204527-139204527
GAintronicDe 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 notesView
More