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Results for "WAC"

Variant Events: 52

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
WAC     M19642chr10:
28872337-28872337		AA/GexonicMaternal--Guo2018 T
WAC     M19643chr10:
28872337-28872337		AA/GexonicMaternal--Guo2018 T
WAC     M10099chr10:
28884796-28884796		CC/TexonicMaternal--Guo2018 T
WAC     M23067chr10:
28906698-28906698		CGexonicPaternal, Unknownnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C1550G
c.C1859G
c.C1724G		p.T517S
p.T620S
p.T575S		33.0-Guo2018 T
Stessman2017 T
Wang2016 T
WAC     1-0028-003 Complex Event; expand row to view variants  De novoframeshift deletionNM_100486
NM_016628
NM_100264
NM_100486
NM_016628
NM_100264		c.1163_1164del
c.1472_1473del
c.1337_1338del
c.1165_1166del
c.1474_1475del
c.1339_1340del		p.S388fs
p.S491fs
p.S446fs
p.Q389fs
p.Q492fs
p.Q447fs		--Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
WAC     40chr10:
28824551-28824551		CTexonicDe novostopgainNM_016628
NM_100264
NM_100486		c.C139T
c.C4T
c.C139T		p.R47X
p.R2X
p.R47X		38.0-O’Roak2014 T
WAC     091-05-102949chr10:
28900807-28900807		AGexonicDe novononsynonymous SNVNM_100486
NM_016628
NM_100264		c.A1084G
c.A1393G
c.A1258G		p.I362V
p.I465V
p.I420V		15.111.648E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WAC     SAGE_228.03chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Wang2020 T
WAC     2-1384-003chr10:
28902775-28902775		TCintronicDe novo--Trost2022 G
Yuen2017 G
WAC     M16158 Complex Event; expand row to view variants  Maternal, Unknownnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C730T
c.C1039T
c.C904T		p.P244S
p.P347S
p.P302S		21.58.245E-6Guo2018 T
Stessman2017 T
WAC     1-1124-003chr10:
28892247-28892247		CTintronicDe novo--Trost2022 G
WAC     M12417chr10:
28903596-28903596		GAexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.G1229A
c.G1538A
c.G1403A		p.R410Q
p.R513Q
p.R468Q		33.0-Guo2018 T
Wang2016 T
Wang2016 T
WAC     1-0045-003chr10:
28944041-28944041		TTCCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCintergenicDe novo--Yuen2017 G
WAC     SP0102345chr10:
28824691-28824691		GCintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
WAC     4-0028-003chr10:
28888329-28888329		GGAintronicDe novo--Trost2022 G
WAC     MSSNG00164-003chr10:
28890841-28890841		GTintronicDe novo--Trost2022 G
WAC     4-0010-003chr10:
28825690-28825690		GAintronicDe novo--Trost2022 G
WAC     HN0172.p1chr10:
28897340-28897340		AA/GexonicMaternal--Guo2018 T
WAC     7-0344-003chr10:
28850365-28850365		CGintronicDe novo--Trost2022 G
WAC     M15033chr10:
28897166-28897166		CC/TexonicPaternal--Guo2018 T
WAC     GX0414.p1chr10:
28824533-28824533		CA/CexonicPaternal--Guo2018 T
WAC     AU057904chr10:
28878776-28878776		GAexonicUnknownnonsynonymous SNVNM_016628
NM_100264
NM_100486		c.G493A
c.G358A
c.G493A		p.E165K
p.E120K
p.E165K		36.0-Stessman2017 T
WAC     5-0014-003chr10:
28852532-28852532		GAintronicDe novo--Trost2022 G
Yuen2017 G
WAC     GX0345.p1chr10:
28879758-28879758		GA/GexonicPaternal--Guo2018 T
WAC     HN0009.p2chr10:
28879722-28879722		GA/GexonicPaternal--Guo2018 T
WAC     GX0213.p1chr10:
28906595-28906595		TA/TexonicPaternal--Guo2018 T
WAC     M30327chr10:
28899675-28899675		AA/CexonicPaternal--Guo2018 T
WAC     ACGC_M12417chr10:
28903596-28903596		GAexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.G1229A
c.G1538A
c.G1403A		p.R410Q
p.R513Q
p.R468Q		33.0-Wang2020 T
WAC     ACGC_M15033chr10:
28897166-28897166		CTexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C662T
c.C971T
c.C836T		p.T221M
p.T324M
p.T279M		22.01.647E-5Wang2020 T
WAC     SSC10854chr10:
28899668-28899672		AATTCAexonicDe novoframeshift deletionNM_100486
NM_016628
NM_100264		c.898_901del
c.1207_1210del
c.1072_1075del		p.I300fs
p.I403fs
p.I358fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
WAC     ACGC_M23067chr10:
28906698-28906698		CGexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C1550G
c.C1859G
c.C1724G		p.T517S
p.T620S
p.T575S		33.0-Wang2020 T
WAC     SSC10126chr10:
28879673-28879675		CAACexonicframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Antaki2022 GE
WAC     3-0095-000chr10:
28879726-28879736		TGCAAGCAACATexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.576_585del
c.441_450del
c.576_585del		p.M192fs
p.M147fs
p.M192fs		--Tammimies2015 E
Tammimies2015 E
Trost2022 G
Zhou2022 GE
WAC     HN0181.p1chr10:
28824670-28824674		TAGAGTexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.259_262del
c.124_127del
c.259_262del		p.R87fs
p.R42fs
p.R87fs		--Guo2018 T
WAC     GX0532.p1chr10:
28824677-28824678		AGAexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.266delG
c.131delG
c.266delG		p.R89fs
p.R44fs
p.R89fs		--Guo2018 T
WAC     14200.p1chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
WAC     14204.p1chr10:
28899668-28899672		AATTCAexonicUnknown, De novoframeshift deletionNM_100486
NM_016628
NM_100264		c.898_901del
c.1207_1210del
c.1072_1075del		p.I300fs
p.I403fs
p.I358fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
WAC     ACGC_M16158chr10:
28897234-28897234		CTexonicMaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C730T
c.C1039T
c.C904T		p.P244S
p.P347S
p.P302S		21.58.245E-6Wang2020 T
WAC     ACGC_GX0247.p1chr10:
28824552-28824552		GAexonicMaternalnonsynonymous SNVNM_016628
NM_100264
NM_100486		c.G140A
c.G5A
c.G140A		p.R47Q
p.R2Q
p.R47Q		28.23.296E-5Wang2020 T
WAC     2-1140-003chr10:
28864391-28864391		GAintronicDe novo--Yuen2017 G
WAC     IGM1021chr10:
28884862-28884862		CTexonicDe novostopgainNM_016628
NM_100264		c.C811T
c.C676T		p.Q271X
p.Q226X		40.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WAC     1-0632-003chr10:
28944041-28944041		TTCCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCintergenicDe novo--Yuen2017 G
WAC     3-0095-000chr10:
28879723-28879723		TCexonicDe novononsynonymous SNVNM_016628
NM_100264
NM_100486		c.T572C
c.T437C
c.T572C		p.V191A
p.V146A
p.V191A		7.658-Trost2022 G
Zhou2022 GE
WAC     ACGC_M8973chr10:
28897273-28897273		CAexonicUnknownnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C769A
c.C1078A
c.C943A		p.P257T
p.P360T
p.P315T		27.0-Wang2020 T
WAC     AGRE_AU057904chr10:
28878776-28878776		GAexonicUnknownnonsynonymous SNVNM_016628
NM_100264
NM_100486		c.G493A
c.G358A
c.G493A		p.E165K
p.E120K
p.E165K		36.0-Wang2020 T
WAC     1-0446-003chr10:
28937317-28937317		GGTATCintergenicDe novo--Yuen2017 G
WAC     2-1562-003chr10:
28944041-28944041		TTCCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCintergenicDe novo--Yuen2017 G
WAC     GX0247.p1chr10:
28824552-28824552		GA/GexonicMaternal--Guo2018 T
WAC     ACGC_GX0532.p1 Complex Event; expand row to view variants  Unknown, De novoframeshift deletion, frameshift substitutionNM_016628
NM_100264
NM_100486
NM_016628
NM_100264
NM_100486		c.266delG
c.131delG
c.266delG
c.267_268T
c.132_133T
c.267_268T		p.R89fs
p.R44fs
p.R89fs
N/A
N/A
N/A		--Wang2020 T
Wang2020 T
WAC     36034chr10:
28879673-28879675		CAACexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Fu2022 E
Trost2022 G
WAC     ACGC_HN0181.p1chr10:
28824670-28824674		TAGAGTexonicDe novoframeshift deletionNM_016628
NM_100264
NM_100486		c.259_262del
c.124_127del
c.259_262del		p.R87fs
p.R42fs
p.R87fs		--Wang2020 T
WAC     GEA354chr10:
28908482-28908482		CTexonicDe novostopgainNM_100486
NM_016628
NM_100264		c.C1582T
c.C1891T
c.C1756T		p.Q528X
p.Q631X
p.Q586X		42.0-Fu2022 E
Source Variant Information

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Source:

Paper alias:

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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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