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Results for "AGAP2"

Variant Events: 24

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
AGAP2     AU024104chr12:
58128130-58128130		CTexonicInheritednonsynonymous SNVNM_001122772
NM_014770		c.G1373A
c.G365A		p.R458Q
p.R122Q		35.04.119E-5Stessman2017 T
AGAP2     03C16028chr12:
58127875-58127875		CAexonicUnknownnonsynonymous SNVNM_001122772
NM_014770		c.G1483T
c.G475T		p.G495W
p.G159W		17.67-Stessman2017 T
AGAP2     08C73792chr12:
58121143-58121143		CGexonicUnknownnonsynonymous SNVNM_014770
NM_001122772		c.G2012C
c.G3080C		p.R671P
p.R1027P		23.0-Stessman2017 T
AGAP2     211-5269-3chr12:
58128416-58128416		CTexonicUnknownnonsynonymous SNVNM_001122772
NM_014770		c.G1274A
c.G266A		p.R425Q
p.R89Q		26.7-Stessman2017 T
AGAP2     Disecmas_237Pchr12:
58135707-58135707		CGexonicDe novononsynonymous SNVNM_014770c.G148Cp.D50H0.103-Fu2022 E
AGAP2     05C51744chr12:
58127926-58127926		CTexonicInheritednonsynonymous SNVNM_001122772
NM_014770		c.G1432A
c.G424A		p.V478I
p.V142I		35.04.172E-5Stessman2017 T
AGAP2     M02243chr12:
58127944-58127944		CTexonicUnknownnonsynonymous SNVNM_001122772
NM_014770		c.G1414A
c.G406A		p.A472T
p.A136T		32.08.375E-6Guo2018 T
Wang2016 T
AGAP2     12624.p1chr12:
58129165-58129165		GAexonicDe novononsynonymous SNVNM_001122772
NM_014770		c.C1214T
c.C206T		p.P405L
p.P69L		18.69-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE
AGAP2     12624.p1chr12:
58131129-58131129		GCexonicDe novononsynonymous SNVNM_001122772c.C901Gp.P301A3.738-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
AGAP2     AU3808305chr12:
58124304-58124304		CTexonicDe novononsynonymous SNVNM_001122772
NM_014770		c.G2402A
c.G1394A		p.R801Q
p.R465Q		11.322.471E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
AGAP2     NDAR_INVAZ651VGG_wes1chr12:
58125237-58125237		CTexonicDe novononsynonymous SNVNM_001122772
NM_014770		c.G2057A
c.G1049A		p.R686Q
p.R350Q		29.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
AGAP2     13206.p1chr12:
58121731-58121731		TCexonicDe novononsynonymous SNVNM_014770
NM_001122772		c.A1687G
c.A2755G		p.S563G
p.S919G		12.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
AGAP2     211-5516-3chr12:
58126738-58126738		CTexonicUnknownnonsynonymous SNVNM_001122772
NM_014770		c.G1574A
c.G566A		p.R525Q
p.R189Q		36.0-Stessman2017 T
AGAP2     SSC05778chr12:
58129165-58129165		GAexonicDe novononsynonymous SNVNM_001122772
NM_014770		c.C1214T
c.C206T		p.P405L
p.P69L		18.69-Fu2022 E
Lim2017 E
AGAP2     2-0110-003chr12:
58134059-58134059		AGintronicDe novo--Yuen2016 G
Yuen2017 G
AGAP2     SSC12659chr12:
58121731-58121731		TCexonicDe novononsynonymous SNVNM_014770
NM_001122772		c.A1687G
c.A2755G		p.S563G
p.S919G		12.1-Fu2022 E
Lim2017 E
Trost2022 G
AGAP2     1-0054-004chr12:
58119001-58119002		TAGTUTR3De novo--Trost2022 G
AGAP2     E7G2Uchr12:
58126690-58126690		CAexonicUnknownnonsynonymous SNVNM_001122772
NM_014770		c.G1622T
c.G614T		p.R541L
p.R205L		27.71.648E-5Stessman2017 T
AGAP2     SSC05778chr12:
58131129-58131129		GCexonicDe novononsynonymous SNVNM_001122772c.C901Gp.P301A3.738-Trost2022 G
AGAP2     AU1254301chr12:
58127926-58127926		CTexonicInheritednonsynonymous SNVNM_001122772
NM_014770		c.G1432A
c.G424A		p.V478I
p.V142I		35.04.172E-5Stessman2017 T
AGAP2     GX0112.p1chr12:
58127944-58127944		CTexonicMaternalnonsynonymous SNVNM_001122772
NM_014770		c.G1414A
c.G406A		p.A472T
p.A136T		32.08.375E-6Guo2018 T
AGAP2     5-5209-003chr12:
58121478-58121478		TCexonicDe novononsynonymous SNVNM_014770
NM_001122772		c.A1775G
c.A2843G		p.D592G
p.D948G		21.7-Trost2022 G
Trost2022 G
Zhou2022 GE
AGAP2     M31213chr12:
58127944-58127944		CTexonicMaternalnonsynonymous SNVNM_001122772
NM_014770		c.G1414A
c.G406A		p.A472T
p.A136T		32.08.375E-6Guo2018 T
AGAP2     1-0057-003chr12:
58124279-58124279		CTexonicDe novosynonymous SNVNM_001122772
NM_014770		c.G2427A
c.G1419A		p.T809T
p.T473T		2.4778.237E-6Trost2022 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
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