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Results for "PSD3"

Variant Events: 42

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
PSD3     AU3702307chr8:
18599554-18599554
GAintronicDe novo--Yuen2017 G
PSD3     AU3915301chr8:
18723128-18723128
CTintronicDe novo--Yuen2017 G
PSD3     2-1514-003chr8:
18871333-18871333
CAupstreamDe novo--Yuen2017 G
PSD3     2-1689-003chr8:
19023652-19023652
TCintergenicDe novo--Yuen2017 G
PSD3     11768.p1chr8:
18662034-18662034
GAexonicMosaic Pat.synonymous SNVNM_206909
NM_015310
c.C306T
c.C1908T
p.L102L
p.L636L
14.744.0E-4Dou2017 E
PSD3     AU3881302chr8:
18478645-18478645
CAintronicDe novo--Yuen2017 G
PSD3     1-0054-004chr8:
18429903-18429903
TAintronicDe novo--Yuen2017 G
PSD3     1-0385-003chr8:
18410604-18410604
AGintronicDe novo--Yuen2017 G
PSD3     AU3702307chr8:
18437169-18437169
AGintronicDe novo--Yuen2017 G
PSD3     3-0392-000chr8:
19034333-19034333
CTintergenicDe novo--Yuen2016 G
PSD3     1-0138-004chr8:
18824826-18824826
CTintronicDe novo--Yuen2017 G
PSD3     AU043804chr8:
19036697-19036697
CAintergenicDe novo--Yuen2017 G
PSD3     Shi2013:2chr8:
18656816-18656816
GTexonicInheritednonsynonymous SNVNM_206909
NM_015310
c.C469A
c.C2071A
p.L157I
p.L691I
20.3-Shi2013 G
PSD3     AU2165301chr8:
18497458-18497458
TCintronicDe novo--Yuen2017 G
PSD3     1-0269-005chr8:
18638165-18638165
GAintronicDe novo--Yuen2017 G
PSD3     2-1350-004chr8:
18906722-18906722
CGintergenicDe novo--Yuen2017 G
PSD3     2-1315-003chr8:
18679130-18679130
CGintronicDe novo--Yuen2017 G
PSD3     AU011903chr8:
18607738-18607738
CTintronicDe novo--Yuen2017 G
PSD3     Shi2013:1chr8:
18656816-18656816
GTexonicInheritednonsynonymous SNVNM_206909
NM_015310
c.C469A
c.C2071A
p.L157I
p.L691I
20.3-Shi2013 G
PSD3     2-1246-003chr8:
18935260-18935260
TCintergenicDe novo--Yuen2017 G
PSD3     2-1442-003chr8:
19021908-19021908
TAintergenicDe novo--Yuen2016 G
PSD3     A4chr8:
19023569-19023569
CAintergenicDe novo--Wu2018 G
PSD3     5-0050-003chr8:
18647392-18647392
GCintronicDe novo--Yuen2017 G
PSD3     14153.p1chr8:
18472923-18472923
CAintronicDe novo--Turner2016 G
PSD3     2-1408-003chr8:
18389055-18389055
GAUTR3De novo--Yuen2017 G
PSD3     2-1525-003chr8:
18542042-18542042
AGintronicDe novo--Yuen2017 G
PSD3     11842.p1chr8:
18730164-18730165
TCTexonicDe novoframeshift deletionNM_015310c.209delGp.G70fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PSD3     13539.p1chr8:
18845803-18845803
GTintronicDe novo--Turner2016 G
PSD3     2-1295-003chr8:
18429682-18429682
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PSD3     1-0271-004chr8:
18841365-18841365
CAintronicDe novo--Yuen2017 G
PSD3     1-0826-004chr8:
18662235-18662235
AGexonicDe novononsynonymous SNVNM_206909
NM_015310
c.T206C
c.T1808C
p.V69A
p.V603A
26.58.244E-6Yuen2017 G
PSD3     1-0885-003chr8:
18737306-18737306
CTintronicDe novo--Yuen2017 G
PSD3     AU4103301chr8:
18876013-18876013
AGintergenicDe novo--Yuen2017 G
PSD3     AU2123302chr8:
18772175-18772175
TGintronicDe novo--Yuen2017 G
PSD3     2-1562-003chr8:
18403758-18403758
CTintronicDe novo--Yuen2017 G
PSD3     5-0117-003chr8:
18953031-18953031
AGintergenicDe novo--Yuen2017 G
PSD3     2-1715-003chr8:
18563850-18563850
GAintronicDe novo--Yuen2017 G
PSD3     1-0215-006chr8:
18758526-18758526
CTintronicDe novo--Yuen2017 G
PSD3     1-0936-003chr8:
19004065-19004065
AGintergenicDe novo--Yuen2017 G
PSD3     1-0051-005chr8:
18911129-18911129
GAintergenicDe novo--Yuen2017 G
PSD3     AU3906301chr8:
18629987-18629987
GAintronicDe novo--Yuen2017 G
PSD3     2-1255-003chr8:
18555554-18555554
GAintronicDe novo--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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