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Results for "PACS2"

Variant Events: 17

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     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
Wang2020 T
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     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
Wang2020 T
PACS2     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
Wang2020 T
PACS2     323418chr14:
105847316-105847317		ACAexonicUnknownframeshift deletionNM_001100913
NM_001243127
NM_015197		c.1149delC
c.924delC
c.1149delC		p.H383fs
p.H308fs
p.H383fs		--Wang2020 T
Wang2020 T
PACS2     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
Wang2020 T
Wang2020 T
PACS2     AU072505chr14:
105794139-105794139		GAintronicDe novo--Yuen2017 G
PACS2     HEN0166.p1chr14:
105850731-105850731		CTexonicMaternal, Unknownnonsynonymous SNVNM_001100913
NM_001243127
NM_015197		c.C1822T
c.C1585T
c.C1810T		p.R608C
p.R529C
p.R604C		17.061.733E-5Wang2020 T
Wang2020 T
PACS2     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
Wang2020 T
PACS2     SF0072463.p1chr14:
105821506-105821506		ACexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197		c.A415C
c.A214C
c.A415C		p.M139L
p.M72L
p.M139L		17.97-Wang2020 T
PACS2     SF0144155.p1chr14:
105833700-105833700		GCexonicDe novononsynonymous SNVNM_001100913
NM_001243127
NM_015197		c.G574C
c.G373C
c.G574C		p.A192P
p.A125P
p.A192P		14.62-Wang2020 T
PACS2     AU3808305chr14:
105859690-105859690		CTintronicDe novo-8.677E-6Yuen2017 G
PACS2     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
Wang2020 T
PACS2     12015.p1chr14:
105843213-105843213		GAexonicDe 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
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