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Results for "AGAP2"

Variant Events: 19

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     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
AGAP2     12624.p1chr12:
58131129-58131129
GCexonicDe novononsynonymous SNVNM_001122772c.C901Gp.P301A3.738-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
AGAP2     AU3808305chr12:
58124304-58124304
CTexonicDe novononsynonymous SNVNM_001122772
NM_014770
c.G2402A
c.G1394A
p.R801Q
p.R465Q
11.322.471E-5Yuen2017 G
AGAP2     NDAR_INVAZ651VGG_wes1chr12:
58125237-58125237
CTexonicDe novononsynonymous SNVNM_001122772
NM_014770
c.G2057A
c.G1049A
p.R686Q
p.R350Q
29.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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
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-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-Lim2017 E
AGAP2     E7G2Uchr12:
58126690-58126690
CAexonicUnknownnonsynonymous SNVNM_001122772
NM_014770
c.G1622T
c.G614T
p.R541L
p.R205L
27.71.648E-5Stessman2017 T
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     M31213chr12:
58127944-58127944
CTexonicMaternalnonsynonymous SNVNM_001122772
NM_014770
c.G1414A
c.G406A
p.A472T
p.A136T
32.08.375E-6Guo2018 T
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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