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Results for "PHIP"

Variant Events: 77

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
PHIP     14054.p1chr6:
79665395-79665395		GCexonicUnknown, De novononsynonymous SNVNM_017934c.C3787Gp.Q1263E13.63-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
PHIP     7-0249-004chr6:
79837661-79837676		ACTGCTGCTGCTGCTGACTGCTGCTGCTGintergenicDe novo--Yuen2017 G
PHIP     Stessman2017:ASD_1165chr6:
79655086-79655086		GAexonicUnknownnonsynonymous SNVNM_017934c.C4759Tp.R1587C21.58.238E-6Stessman2017 T
PHIP     GX0077.p1chr6:
79752720-79752720		GAexonicPaternalnonsynonymous SNVNM_017934c.C440Tp.A147V3.662.479E-5Guo2018 T
PHIP     SF0073526.p1chr6:
79735702-79735703		CACexonicframeshift deletionNM_017934c.779delTp.L260fs--Wang2020 T
PHIP     M31875chr6:
79688358-79688358		GAexonicPaternalnonsynonymous SNVNM_017934c.C2840Tp.T947I22.1-Guo2018 T
PHIP     SF0139970.p1chr6:
79770490-79770490		AGexonicnonsynonymous SNVNM_017934c.T235Cp.C79R23.4-Wang2020 T
PHIP     M3323chr6:
79695138-79695138		TCexonicPaternalnonsynonymous SNVNM_017934c.A2468Gp.E823G19.211.648E-5Wang2016 T
PHIP     HEN0281.p1chr6:
79664653-79664653		TG/TexonicMaternal--Guo2018 T
PHIP     HEN0251.p1chr6:
79655047-79655047		GA/GexonicMaternal--Guo2018 T
PHIP     M8757chr6:
79697996-79697996		CTexonicPaternalnonsynonymous SNVNM_017934c.G2390Ap.R797H17.72.474E-5Wang2016 T
PHIP     HEN0136.p1chr6:
79727264-79727264		AGexonicMaternalnonsynonymous SNVNM_017934c.T1031Cp.I344T14.378.329E-6Guo2018 T
PHIP     HN0189.p1chr6:
79698041-79698041		TC/TexonicMaternal--Guo2018 T
PHIP     14228.p1chr6:
79735235-79735240		CTTTATCexonicDe novoframeshift deletionNM_017934c.919_923delp.I307fs-8.287E-6Turner2017 G
Werling2018 G
Wilfert2021 G
Zhou2022 GE
PHIP     JS0062.p1chr6:
79651012-79651012		TC/TexonicMaternal--Guo2018 T
PHIP     2-1485-004chr6:
79746085-79746085		CTintronicDe novo--Yuen2017 G
PHIP     Hu2022:48chr6:
79727249-79727249		ATexonicPaternalnonsynonymous SNVNM_017934c.T1046Ap.F349Y5.54-Hu2022 T
PHIP     AU056803chr6:
79688473-79688473		CTintronicDe novo--Trost2022 G
PHIP     1-0628-003chr6:
79706543-79706543		TCintronicDe novo--Trost2022 G
PHIP     1-0395-003chr6:
79675895-79675895		CAintronicDe novo--Trost2022 G
Yuen2017 G
PHIP     MSSNG00421-005chr6:
79651146-79651146		GAintronicDe novo--Trost2022 G
PHIP     M03323chr6:
79695138-79695138		TCexonicPaternalnonsynonymous SNVNM_017934c.A2468Gp.E823G19.211.648E-5Guo2018 T
PHIP     M08757chr6:
79697996-79697996		CTexonicPaternalnonsynonymous SNVNM_017934c.G2390Ap.R797H17.72.474E-5Guo2018 T
PHIP     Hu2022:53chr6:
79672916-79672916		TCexonicUnknownnonsynonymous SNVNM_017934c.A3433Gp.R1145G17.94-Hu2022 T
PHIP     5-5031-004chr6:
79739466-79739466		CTintronicDe novo--Trost2022 G
PHIP     SP0225240chr6:
79787733-79787733		CGintronicDe novo--Trost2022 G
PHIP     REACH000096chr6:
79726377-79726377		CTintronicDe novo--Trost2022 G
PHIP     3-0531-000chr6:
79732973-79732977		GTTGTGintronicDe novo--Trost2022 G
PHIP     1-0296-003chr6:
79897591-79897591		TCintergenicDe novo--Yuen2017 G
PHIP     2-1109-004chr6:
79723784-79723784		TTCACCGintronicDe novo--Trost2022 G
PHIP     7-0233-003chr6:
79723802-79723811		ACCTAATGTATTTTTTTTTTintronicDe novo--Trost2022 G
PHIP     14215.p1chr6:
79680570-79680570		GAexonicDe novosynonymous SNVNM_017934c.C2925Tp.V975V-3.509E-5Satterstrom2020 E
Zhou2022 GE
PHIP     M15191chr6:
79692757-79692757		TCexonicMaternalnonsynonymous SNVNM_017934c.A2615Gp.N872S12.348.256E-6Guo2018 T
Wang2016 T
PHIP     Hu2022:56chr6:
79665392-79665392		TCexonicPaternalnonsynonymous SNVNM_017934c.A3790Gp.T1264A13.86-Hu2022 T
PHIP     13012.p1chr6:
79657562-79657562		CTintronicMosaic--Dou2017 E
PHIP     REACH000189 Complex Event; expand row to view variants  De novononsynonymous SNVNM_017934
NM_017934		c.C92T
c.G91T		p.A31V
p.A31S		19.32-Trost2022 G
Trost2022 G
Zhou2022 GE
Zhou2022 GE
PHIP     MSSNG00184-003chr6:
79680500-79680500		GTexonicDe novosynonymous SNVNM_017934c.C2995Ap.R999R--Trost2022 G
Zhou2022 GE
PHIP     M20730chr6:
79655019-79655019		TGexonicMaternalnonsynonymous SNVNM_017934c.A4826Cp.Q1609P8.768.241E-6Wang2016 T
PHIP     14054_p1chr6:
79665395-79665395		GCexonicDe novononsynonymous SNVNM_017934c.C3787Gp.Q1263E13.63-Fu2022 E
PHIP     SSC10810chr6:
79680570-79680570		GAexonicDe novosynonymous SNVNM_017934c.C2925Tp.V975V-3.509E-5Fu2022 E
Trost2022 G
PHIP     SSC10624chr6:
79735235-79735240		CTTTATCexonicframeshift deletionNM_017934c.919_923delp.I307fs-8.287E-6Antaki2022 GE
PHIP     SP0139970chr6:
79770490-79770490		AGexonicDe novononsynonymous SNVNM_017934c.T235Cp.C79R23.4-Antaki2022 GE
Fu2022 E
Zhou2022 GE
PHIP     SP0073526chr6:
79735702-79735703		CACexonicDe novoframeshift deletionNM_017934c.779delTp.L260fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PHIP     M17563chr6:
79727285-79727285		GAexonicPaternalnonsynonymous SNVNM_017934c.C1010Tp.A337V26.81.674E-5Guo2018 T
Wang2016 T
PHIP     2-1485-003chr6:
79746085-79746085		CTintronicDe novo--Trost2022 G
Yuen2017 G
PHIP     M21714chr6:
79650639-79650639		AGexonicPaternalnonsynonymous SNVNM_017934c.T5237Cp.I1746T-1.647E-5Guo2018 T
Wang2016 T
PHIP     ACGC_HEN432.p1chr6:
79664655-79664655		CTexonicUnknownnonsynonymous SNVNM_017934c.G3929Ap.R1310H23.0-Wang2020 T
PHIP     Leuven2_60757044chr6:
79724852-79724852		CTexonicUnknownnonsynonymous SNVNM_017934c.G1471Ap.V491M18.51-Wang2020 T
PHIP     ACGC_M17483chr6:
79752571-79752571		GAexonicUnknownnonsynonymous SNVNM_017934c.C589Tp.R197W20.78.274E-6Wang2020 T
PHIP     Leuven_327904chr6:
79650649-79650649		GAexonicUnknownstopgainNM_017934c.C5227Tp.R1743X41.0-Wang2020 T
PHIP     ACGC_SD0349.p1chr6:
79735788-79735788		CTexonicUnknownnonsynonymous SNVNM_017934c.G694Ap.A232T28.7-Wang2020 T
PHIP     Leuven2_84824820chr6:
79656522-79656522		TAexonicUnknownstopgainNM_017934c.A4276Tp.K1426X43.0-Wang2020 T
PHIP     GX0485.p1chr6:
79679863-79679863		TGexonicMaternalnonsynonymous SNVNM_017934c.A3025Cp.I1009L18.44-Guo2018 T
PHIP     7-0032-003chr6:
79770397-79770397		GAexonicUnknown, De novononsynonymous SNVNM_017934c.C328Tp.R110C21.0-Trost2022 G
Wang2020 T
Yuen2017 G
Zhou2022 GE
PHIP     GX0335.p1chr6:
79672819-79672819		GTexonicMaternalnonsynonymous SNVNM_017934c.C3530Ap.T1177K23.9-Guo2018 T
PHIP     Courchesne_L9U2Vchr6:
79680560-79680560		GAexonicUnknownnonsynonymous SNVNM_017934c.C2935Tp.R979W21.48.637E-6Wang2020 T
PHIP     SP0090089chr6:
79671534-79671534		TCintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
PHIP     HN0077.p1chr6:
79735718-79735718		CTexonicMaternalnonsynonymous SNVNM_017934c.G764Ap.R255Q17.38-Guo2018 T
PHIP     GX0515.p1chr6:
79727264-79727264		AGexonicMaternalnonsynonymous SNVNM_017934c.T1031Cp.I344T14.378.329E-6Guo2018 T
PHIP     Melbourne2_ASD_1165chr6:
79655086-79655086		GAexonicUnknownnonsynonymous SNVNM_017934c.C4759Tp.R1587C21.58.238E-6Wang2020 T
PHIP     ACGC_HEN0286.p1chr6:
79655085-79655085		CTexonicUnknownnonsynonymous SNVNM_017934c.G4760Ap.R1587H22.88.238E-6Wang2020 T
PHIP     GX0396.p1chr6:
79655879-79655879		TCexonicMaternalnonsynonymous SNVNM_017934c.A4469Gp.N1490S2.7481.648E-5Guo2018 T
PHIP     ACGC_M23723chr6:
79680592-79680592		CTexonicUnknownnonsynonymous SNVNM_017934c.G2903Ap.R968Q19.839.898E-6Wang2020 T
PHIP     ACGC_GX0478.p1chr6:
79664656-79664656		GAexonicUnknownnonsynonymous SNVNM_017934c.C3928Tp.R1310C25.78.381E-6Wang2020 T
PHIP     M15024 Complex Event; expand row to view variants  De novoframeshift deletionNM_017934
NM_017934		c.5300_5301del
c.5299_5300del		p.R1767fs
p.R1767fs		--Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
PHIP     ACGC_M15024chr6:
79650574-79650576		TTCTexonicDe novoframeshift deletionNM_017934c.5300_5301delp.R1767fs--Wang2020 T
PHIP     HEN0180.p1chr6:
79655763-79655763		TC/TexonicPaternal--Guo2018 T
PHIP     SP0163383chr6:
79735734-79735734		GAexonicstopgainNM_017934c.C748Tp.R250X38.0-Zhou2022 GE
PHIP     SP0066366chr6:
79727244-79727244		CCAexonicframeshift insertionNM_017934c.1050dupTp.G351fs--Zhou2022 GE
PHIP     HEN0310.p1chr6:
79672862-79672862		CC/TexonicPaternal--Guo2018 T
PHIP     327904chr6:
79650649-79650649		GAexonicInheritedstopgainNM_017934c.C5227Tp.R1743X41.0-Stessman2017 T
PHIP     SP0103478chr6:
79700670-79700670		TTCTCexonicnonframeshift insertionNM_017934c.2233_2234insGAGp.E745delinsGE--Zhou2022 GE
PHIP     1-0604-003chr6:
79699336-79699340		ATGTGATGintronicDe novo--Yuen2017 G
PHIP     M20573chr6:
79679845-79679845		ATexonicPaternalnonsynonymous SNVNM_017934c.T3043Ap.L1015I17.54-Wang2016 T
PHIP     F9602-1chr6:
79672908-79672909		TATexonicDe novoframeshift deletionNM_017934c.3440delTp.L1147fs--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PHIP     1-0395-004chr6:
79675895-79675895		CAintronicDe novo--Yuen2017 G
PHIP     MR432chr6:
79726310-79726310		GAexonicDe novostopgainNM_017934c.C1186Tp.R396X39.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

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Paper Information
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