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Results for "ARHGAP32"

Variant Events: 56

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
ARHGAP32     7-0242-003chr11:
128898221-128898221		GAintronicDe novo--Yuen2017 G
ARHGAP32     M20730chr11:
128842449-128842449		GAexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.C2863T
c.C3910T		p.R955C
p.R1304C		14.038.975E-6Wang2016 T
ARHGAP32     AU004017chr11:
128839782-128839782		GAexonicDe novononsynonymous SNVNM_014715
NM_001142685		c.C4237T
c.C5284T		p.R1413W
p.R1762W		20.48.237E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ARHGAP32     220-9976-203chr11:
129062021-129062021		GAexonicMaternalstopgainNM_001142685c.C73Tp.Q25X25.7-Stessman2017 T
ARHGAP32     2-1426-003chr11:
129028094-129028094		TGintronicDe novo--Yuen2017 G
ARHGAP32     SP0068785chr11:
128857955-128857955		GAexonicDe novononsynonymous SNVNM_014715
NM_001142685		c.C172T
c.C1219T		p.R58C
p.R407C		20.7-Antaki2022 GE
Fu2022 E
ARHGAP32     M16079chr11:
128844790-128844790		GCexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.C1213G
c.C2260G		p.L405V
p.L754V		15.316.595E-5Wang2016 T
ARHGAP32     M15093chr11:
128840441-128840441		CGexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G3578C
c.G4625C		p.R1193T
p.R1542T		12.8-Wang2016 T
ARHGAP32     M32041chr11:
128839261-128839261		TTAexonicMaternalframeshift insertionNM_014715
NM_001142685		c.4757dupT
c.5804dupT		p.L1586fs
p.L1935fs		--Guo2018 T
ARHGAP32     SP0111761chr11:
128840197-128840197		AGexonicDe novosynonymous SNVNM_014715
NM_001142685		c.T3822C
c.T4869C		p.Y1274Y
p.Y1623Y		--Fu2022 E
ARHGAP32     AU3702307chr11:
128916692-128916692		GAintronicDe novo--Yuen2017 G
ARHGAP32     M12374chr11:
128844223-128844223		CTexonicPaternalnonsynonymous SNVNM_014715
NM_001142685		c.G1780A
c.G2827A		p.V594I
p.V943I		0.003-Wang2016 T
ARHGAP32     3-0246-000chr11:
129214047-129214047		GTintergenicDe novo--Yuen2017 G
ARHGAP32     216-4484-1chr11:
128842467-128842467		GAexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.C2845T
c.C3892T		p.R949C
p.R1298C		19.03.557E-5Stessman2017 T
ARHGAP32     M23710chr11:
128838917-128838917		GTexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.C5102A
c.C6149A		p.P1701H
p.P2050H		13.85-Wang2016 T
ARHGAP32     217-14051-880chr11:
128840405-128840405		CTexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.G3614A
c.G4661A		p.R1205Q
p.R1554Q		26.28.237E-6Stessman2017 T
ARHGAP32     1-0458-004chr11:
128979299-128979299		CTintronicDe novo--Yuen2017 G
ARHGAP32     M11423chr11:
128844392-128844392		CGexonicPaternalnonsynonymous SNVNM_014715
NM_001142685		c.G1611C
c.G2658C		p.K537N
p.K886N		15.83-Wang2016 T
ARHGAP32     1-0551-004chr11:
129183912-129183912		CTintergenicDe novo--Yuen2017 G
ARHGAP32     7-0023-003chr11:
129017384-129017384		TCintronicDe novo--Yuen2017 G
ARHGAP32     A5chr11:
129138289-129138289		CTintergenicDe novo--Wu2018 G
ARHGAP32     M23136chr11:
128842466-128842466		CTexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G2846A
c.G3893A		p.R949H
p.R1298H		19.782.0E-4Wang2016 T
ARHGAP32     AU4487302chr11:
128962448-128962448		ACintronicDe novo--Yuen2017 G
ARHGAP32     M20600chr11:
128842712-128842712		TCexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.A2600G
c.A3647G		p.Y867C
p.Y1216C		12.52-Wang2016 T
ARHGAP32     DEASD_1016_001chr11:
128840384-128840384		ACexonicDe novononsynonymous SNVNM_014715
NM_001142685		c.T3635G
c.T4682G		p.L1212W
p.L1561W		16.41-Fu2022 E
Satterstrom2020 E
ARHGAP32     M20606chr11:
128839494-128839494		TCexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.A4525G
c.A5572G		p.K1509E
p.K1858E		22.21.648E-5Wang2016 T
ARHGAP32     1-0273-004chr11:
129199187-129199187		GAintergenicDe novo--Yuen2017 G
ARHGAP32     1-0706-003chr11:
128867315-128867315		AGintronicDe novo--Yuen2017 G
ARHGAP32     M17574chr11:
128840289-128840289		TCexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.A3730G
c.A4777G		p.M1244V
p.M1593V		11.849.061E-5Wang2016 T
ARHGAP32     M13398chr11:
128848770-128848770		TCexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.A928G
c.A1975G		p.S310G
p.S659G		19.818.282E-6Wang2016 T
ARHGAP32     1-0367-003chr11:
128970371-128970371		CTintronicDe novo--Yuen2017 G
ARHGAP32     M21636chr11:
128963551-128963551		TCexonicMaternalnonsynonymous SNVNM_001142685c.A454Gp.K152E15.72-Wang2016 T
ARHGAP32     M17585chr11:
128842787-128842787		CTexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G2525A
c.G3572A		p.S842N
p.S1191N		6.486-Wang2016 T
ARHGAP32     M8428chr11:
128843295-128843295		CTexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G2017A
c.G3064A		p.V673I
p.V1022I		14.637.465E-5Wang2016 T
ARHGAP32     2-1633-003chr11:
129132618-129132618		ACintergenicDe novo--Yuen2017 G
ARHGAP32     M21681chr11:
129062074-129062074		CTexonicMaternalnonsynonymous SNVNM_001142685c.G20Ap.S7N10.02-Wang2016 T
ARHGAP32     M20247chr11:
128840352-128840353		CGCexonicUnknown, De novoframeshift deletionNM_014715
NM_001142685		c.3666delC
c.4713delC		p.P1222fs
p.P1571fs		--Guo2018 T
Stessman2017 T
Wang2016 T
ARHGAP32     2-1461-003chr11:
128905671-128905671		GAintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP32     M18428chr11:
128843237-128843237		CAexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G2075T
c.G3122T		p.R692L
p.R1041L		24.9-Wang2016 T
ARHGAP32     M8322chr11:
128840540-128840540		GAexonicPaternalnonsynonymous SNVNM_014715
NM_001142685		c.C3479T
c.C4526T		p.P1160L
p.P1509L		9.236-Wang2016 T
ARHGAP32     M12390chr11:
128934779-128934779		GAexonicPaternalnonsynonymous SNVNM_001142685c.C677Tp.A226V14.72-Wang2016 T
ARHGAP32     217-14372-4850chr11:
128993419-128993421		GGGAGTAAAGTACTTCGGAAAGexonicInheritedframeshift substitutionNM_001142685c.323_324TTTCCGAAGTACTTTACTN/A--Stessman2017 T
ARHGAP32     210-18163-302chr11:
128839787-128839787		CTexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.G4232A
c.G5279A		p.R1411H
p.R1760H		26.81.647E-5Stessman2017 T
ARHGAP32     AU1339302chr11:
128839688-128839688		CTexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.G4331A
c.G5378A		p.R1444H
p.R1793H		21.22.471E-5Stessman2017 T
ARHGAP32     M20592chr11:
128840364-128840364		TCexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.A3655G
c.A4702G		p.T1219A
p.T1568A		0.016-Wang2016 T
ARHGAP32     1-0636-003chr11:
129223601-129223601		TCintergenicDe novo--Yuen2017 G
ARHGAP32     2-1741-003chr11:
129187619-129187619		GAintergenicDe novo--Yuen2017 G
ARHGAP32     M13338chr11:
128843026-128843026		ATexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.T2286A
c.T3333A		p.N762K
p.N1111K		12.81-Wang2016 T
ARHGAP32     M15024chr11:
128851803-128851803		ACexonicPaternalnonsynonymous SNVNM_014715
NM_001142685		c.T466G
c.T1513G		p.S156A
p.S505A		7.4174.975E-5Wang2016 T
ARHGAP32     M8856chr11:
128840423-128840423		TCexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.A3596G
c.A4643G		p.H1199R
p.H1548R		11.22-Wang2016 T
ARHGAP32     AU1699302chr11:
128846506-128846506		GAexonicUnknownnonsynonymous SNVNM_014715
NM_001142685		c.C1057T
c.C2104T		p.R353C
p.R702C		25.41.648E-5Stessman2017 T
ARHGAP32     1-0482-003chr11:
128847299-128847299		TCintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP32     1-0065-005chr11:
129054884-129054884		GGACintronicDe novo--Yuen2017 G
ARHGAP32     1-0354-003chr11:
128948678-128948678		GAintronicDe novo--Yuen2017 G
ARHGAP32     M10126chr11:
128840225-128840225		GAexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.C3794T
c.C4841T		p.P1265L
p.P1614L		19.498.238E-6Wang2016 T
ARHGAP32     5-0015-004chr11:
129060125-129060125		AGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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.
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