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Results for "PACS2"

Variant Events: 20

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
PACS2     AU005213chr14:
105829484-105829484
TCintronicDe novo--Yuen2017 G
PACS2     Lim2017:5908chr14:
105843213-105843213
GAexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G910A
c.G685A
c.G910A
p.D304N
p.D229N
p.D304N
20.8-Lim2017 E
PACS2     2-1093-003chr14:
105863618-105863618
GCUTR3De novo--Yuen2017 G
PACS2     SP0072463chr14:
105821506-105821506
ACexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.A415C
c.A214C
c.A415C
p.M139L
p.M72L
p.M139L
17.97-Fu2022 E
PACS2     SP0144155chr14:
105833700-105833700
GCexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G574C
c.G373C
c.G574C
p.A192P
p.A125P
p.A192P
14.62-Fu2022 E
PACS2     Leuven2_80986847chr14:
105859069-105859069
CTexonicUnknownnonsynonymous SNVNM_001243127
NM_015197
NM_001100913
c.C2099T
c.C2324T
c.C2369T
p.T700M
p.T775M
p.T790M
18.9-Wang2020 T
PACS2     Leuven_323418chr14:
105847316-105847317
ACAexonicUnknownframeshift deletionNM_001100913
NM_001243127
NM_015197
c.1149delC
c.924delC
c.1149delC
p.H383fs
p.H308fs
p.H383fs
--Wang2020 T
PACS2     SP0123351chr14:
105851211-105851211
TAintronicDe novo--Fu2022 E
PACS2     Leuven2_60496758chr14:
105833626-105833626
CTexonicUnknownnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.C500T
c.C299T
c.C500T
p.A167V
p.A100V
p.A167V
28.3-Wang2020 T
PACS2     AU072505chr14:
105794139-105794139
GAintronicDe novo--Yuen2017 G
PACS2     Leuven2_81176521chr14:
105833626-105833626
CTexonicUnknownnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.C500T
c.C299T
c.C500T
p.A167V
p.A100V
p.A167V
28.3-Wang2020 T
PACS2     SF0144155.p1chr14:
105833700-105833700
GCexonicnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G574C
c.G373C
c.G574C
p.A192P
p.A125P
p.A192P
14.62-Wang2020 T
PACS2     ACGC_HEN0076.p1chr14:
105850731-105850731
CTexonicMaternalnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.C1822T
c.C1585T
c.C1810T
p.R608C
p.R529C
p.R604C
17.061.733E-5Wang2020 T
PACS2     SF0072463.p1chr14:
105821506-105821506
ACexonicnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.A415C
c.A214C
c.A415C
p.M139L
p.M72L
p.M139L
17.97-Wang2020 T
PACS2     5908chr14:
105843213-105843213
GAexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G910A
c.G685A
c.G910A
p.D304N
p.D229N
p.D304N
20.8-Fu2022 E
PACS2     SanDiego_S7J3Dchr14:
105859069-105859069
CAexonicUnknownnonsynonymous SNVNM_001243127
NM_015197
NM_001100913
c.C2099A
c.C2324A
c.C2369A
p.T700K
p.T775K
p.T790K
20.68.454E-6Wang2020 T
PACS2     Iowa_134_1_a.2.1chr14:
105821483-105821483
CTexonicUnknownnonsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.C392T
c.C191T
c.C392T
p.T131M
p.T64M
p.T131M
25.11.675E-5Wang2020 T
PACS2     AU3808305chr14:
105859690-105859690
CTintronicDe novo-8.677E-6Yuen2017 G
PACS2     12015.p1chr14:
105843213-105843213
GAexonicUnknown, De novononsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.G910A
c.G685A
c.G910A
p.D304N
p.D229N
p.D304N
20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
PACS2     12594.p1chr14:
105846133-105846133
CTexonicMosaicsynonymous SNVNM_001100913
NM_001243127
NM_015197
c.C1017T
c.C792T
c.C1017T
p.H339H
p.H264H
p.H339H
--Dou2017 E
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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