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Results for "Long2019"

Variant Events: 33

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
SCN1A     P098chr2:
166911226-166911226		GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C524T
c.C524T
c.C524T
c.C524T		p.A175V
p.A175V
p.A175V
p.A175V		34.0-Long2019 ET
SCN1A     P074chr2:
166895930-166895930		TAintronicDe novo--Long2019 ET
MECP2     P017chrX:
153363074-153363085		CGCCTCCTCCTCCexonicUnknownframeshift deletionNM_001110792c.38_48delp.G13fs--Long2019 ET
SCN1A     P102chr2:
166915124-166915128		GGGAGGexonicDe novoframeshift deletionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.335_338del
c.335_338del
c.335_338del
c.335_338del		p.T112fs
p.T112fs
p.T112fs
p.T112fs		--Long2019 ET
SCN1A     P018chr2:
166859023-166859023		AGexonicUnknownnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.T4243C
c.T4159C
c.T4210C
c.T4243C		p.F1415L
p.F1387L
p.F1404L
p.F1415L		18.83-Long2019 ET
SCN1A     P036chr2:
166911266-166911267		TGGTexonicDe novononframeshift substitutionNM_001165963
NM_001165964
NM_006920
NM_001202435		c.483_484AC
c.483_484AC
c.483_484AC
c.483_484AC		N/A
N/A
N/A
N/A		--Long2019 ET
SCN1A     P029chr2:
166904234-166904234		GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C1073T
c.C1073T
c.C1073T
c.C1073T		p.P358L
p.P358L
p.P358L
p.P358L		28.5-Long2019 ET
CACNA1H     P025chr16:
1261575-1261575		GAexonicPaternalnonsynonymous SNVNM_001005407
NM_021098		c.G4445A
c.G4445A		p.R1482Q
p.R1482Q		33.01.0E-4Long2019 ET
CACNA1A     P021chr19:
13373569-13373572		GATGGexonicDe novononframeshift deletionNM_001127221
NM_001127222		c.4068_4070del
c.4065_4067del		p.1356_1357del
p.1355_1356del		--Long2019 ET
CACNA1D     P051chr3:
53810651-53810651		GCexonicDe novononsynonymous SNVNM_001128839
NM_001128840
NM_000720		c.G4339C
c.G4384C
c.G4444C		p.V1447L
p.V1462L
p.V1482L		33.0-Long2019 ET
CACNA1H     P069chr16:
1255204-1255204		GAexonicUnknownnonsynonymous SNVNM_001005407
NM_021098		c.G2542A
c.G2542A		p.G848S
p.G848S		17.915.85E-5Long2019 ET
MECP2     P027chrX:
153296363-153296363		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C952T
c.C916T
c.C637T		p.R318C
p.R306C
p.R213C		21.0-Long2019 ET
MECP2     P023chrX:
153296882-153296882		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C433T
c.C397T
c.C118T		p.R145C
p.R133C
p.R40C		18.34-Long2019 ET
CACNA1A     P014chr19:
13373594-13373594		CTexonicDe novononsynonymous SNVNM_001127221
NM_001127222		c.G4046A
c.G4043A		p.R1349Q
p.R1348Q		24.0-Long2019 ET
MECP2     P050chrX:
153296516-153296516		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C799T
c.C763T
c.C484T		p.R267X
p.R255X
p.R162X		33.0-Long2019 ET
CNTNAP2     P007chr7:
147914415-147914415		CTexonicInheritedstopgainNM_014141c.C3046Tp.R1016X40.08.239E-6Long2019 ET
TPP1     P003chr11:
6638091-6638091		CTsplicingMaternalsplicing17.88-Long2019 ET
NF2     P019chr22:
30069261-30069261		CTexonicDe novononsynonymous SNVNM_181830
NM_181831
NM_181828
NM_181829
NM_000268
NM_016418
NM_181825
NM_181832		c.C877T
c.C877T
c.C1000T
c.C1003T
c.C1126T
c.C1126T
c.C1126T
c.C1126T		p.R293W
p.R293W
p.R334W
p.R335W
p.R376W
p.R376W
p.R376W
p.R376W		23.4-Long2019 ET
STXBP1     P011chr9:
130444839-130444839		GAexonicDe novononsynonymous SNVNM_001032221
NM_003165		c.G1702A
c.G1702A		p.G568R
p.G568S		36.0-Long2019 ET
SCN2A     P101chr2:
166229846-166229846		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3961A
c.G3961A
c.G3961A		p.E1321K
p.E1321K
p.E1321K		36.0-Long2019 ET
SCN2A     P045chr2:
166198975-166198975		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2558A
c.G2558A
c.G2558A		p.R853Q
p.R853Q
p.R853Q		35.0-Long2019 ET
TPP1     P003chr11:
6636403-6636403		GAexonicPaternalnonsynonymous SNVNM_000391c.C1424Tp.S475L32.02.471E-5Long2019 ET
DYNC1H1     P001chr14:
102466482-102466482		GAsplicingDe novosplicing21.8-Long2019 ET
GABRG2     P082chr5:
161576159-161576159		GAexonicDe novononsynonymous SNVNM_000816
NM_198904
NM_198903		c.G968A
c.G968A
c.G1088A		p.R323Q
p.R323Q
p.R363Q		36.0-Long2019 ET
WDR45     P044chrX:
48933541-48933541		CTexonicDe novononsynonymous SNVNM_001029896
NM_007075		c.G500A
c.G503A		p.G167E
p.G168E		18.51-Long2019 ET
HCFC1     P093chrX:
153220990-153220990		CTexonicInheritednonsynonymous SNVNM_005334c.G2860Ap.V954M13.062.619E-5Long2019 ET
RAB39B     P092chrX:
154490257-154490257		AGexonicMaternalnonsynonymous SNVNM_171998c.T473Cp.I158T8.583-Long2019 ET
CNNM2     P033chr10:
104678391-104678391		CTexonicUnknownnonsynonymous SNVNM_017649
NM_199076
NM_199077		c.C154T
c.C154T
c.C154T		p.L52F
p.L52F
p.L52F		14.27-Long2019 ET
BRWD3     P020chrX:
79975160-79975160		AGintronicMaternal--Long2019 ET
EHMT1     P042chr9:
140646776-140646776		TCintronicPaternal--Long2019 ET
CASK     P035chrX:
41413089-41413089		CTexonicMaternalnonsynonymous SNVNM_001126055
NM_001126054
NM_003688		c.G1835A
c.G1853A
c.G1922A		p.R612K
p.R618K
p.R641K		9.6072.0E-4Long2019 ET
PCDH19     P103chrX:
99658588-99658588		GAexonicPaternalnonsynonymous SNVNM_001184880c.C2222Tp.S741L5.993-Long2019 ET
PIGA     P096chrX:
15349713-15349713		TAexonicMaternalnonsynonymous SNVNM_002641c.A340Tp.R114W20.4-Long2019 ET
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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