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Results for "PHIP"

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
PHIP     14054.p1chr6:
79665395-79665395		GCexonicDe novononsynonymous SNVNM_017934c.C3787Gp.Q1263E13.63-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
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     M31875chr6:
79688358-79688358		GAexonicPaternalnonsynonymous SNVNM_017934c.C2840Tp.T947I22.1-Guo2018 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
PHIP     JS0062.p1chr6:
79651012-79651012		TC/TexonicMaternal--Guo2018 T
PHIP     2-1485-004chr6:
79746085-79746085		CTintronicDe novo--Yuen2017 G
PHIP     1-0395-003chr6:
79675895-79675895		CAintronicDe novo--Yuen2017 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     1-0296-003chr6:
79897591-79897591		TCintergenicDe novo--Yuen2017 G
PHIP     14215.p1chr6:
79680570-79680570		GAexonicDe novosynonymous SNVNM_017934c.C2925Tp.V975V-3.509E-5Satterstrom2020 E
PHIP     M15191chr6:
79692757-79692757		TCexonicMaternalnonsynonymous SNVNM_017934c.A2615Gp.N872S12.348.256E-6Guo2018 T
Wang2016 T
PHIP     13012.p1chr6:
79657562-79657562		CTintronicMosaic--Dou2017 E
PHIP     SF0139970.p1chr6:
79770490-79770490		AGexonicDe novononsynonymous SNVNM_017934c.T235Cp.C79R23.4-Wang2020 T
PHIP     SF0073526.p1chr6:
79735702-79735703		CACexonicDe novoframeshift deletionNM_017934c.779delTp.L260fs--Wang2020 T
PHIP     M20730chr6:
79655019-79655019		TGexonicMaternalnonsynonymous SNVNM_017934c.A4826Cp.Q1609P8.768.241E-6Wang2016 T
PHIP     SD0349.p1chr6:
79735788-79735788		CTexonicUnknownnonsynonymous SNVNM_017934c.G694Ap.A232T28.7-Wang2020 T
Wang2020 T
PHIP     HEN432.p1chr6:
79664655-79664655		CTexonicUnknownnonsynonymous SNVNM_017934c.G3929Ap.R1310H23.0-Wang2020 T
Wang2020 T
PHIP     M23723chr6:
79680592-79680592		CTexonicUnknownnonsynonymous SNVNM_017934c.G2903Ap.R968Q19.839.898E-6Wang2020 T
Wang2020 T
PHIP     HEN0286.p1chr6:
79655085-79655085		CTexonicUnknownnonsynonymous SNVNM_017934c.G4760Ap.R1587H22.88.238E-6Wang2020 T
Wang2020 T
PHIP     M17483chr6:
79752571-79752571		GAexonicUnknownnonsynonymous SNVNM_017934c.C589Tp.R197W20.78.274E-6Wang2020 T
Wang2020 T
PHIP     GX0478.p1chr6:
79664656-79664656		GAexonicUnknownnonsynonymous SNVNM_017934c.C3928Tp.R1310C25.78.381E-6Wang2020 T
Wang2020 T
PHIP     ASDchr6:
79655086-79655086		GAexonicUnknownnonsynonymous SNVNM_017934c.C4759Tp.R1587C21.58.238E-6Wang2020 T
PHIP     M17563chr6:
79727285-79727285		GAexonicPaternalnonsynonymous SNVNM_017934c.C1010Tp.A337V26.81.674E-5Guo2018 T
Wang2016 T
PHIP     2-1485-003chr6:
79746085-79746085		CTintronicDe novo--Yuen2017 G
PHIP     M21714chr6:
79650639-79650639		AGexonicPaternalnonsynonymous SNVNM_017934c.T5237Cp.I1746T-1.647E-5Guo2018 T
Wang2016 T
PHIP     84824820chr6:
79656522-79656522		TAexonicUnknownstopgainNM_017934c.A4276Tp.K1426X43.0-Wang2020 T
Wang2020 T
PHIP     GX0485.p1chr6:
79679863-79679863		TGexonicMaternalnonsynonymous SNVNM_017934c.A3025Cp.I1009L18.44-Guo2018 T
PHIP     7-0032-003chr6:
79770397-79770397		GAexonicDe novononsynonymous SNVNM_017934c.C328Tp.R110C21.0-Wang2020 T
Yuen2017 G
PHIP     GX0335.p1chr6:
79672819-79672819		GTexonicMaternalnonsynonymous SNVNM_017934c.C3530Ap.T1177K23.9-Guo2018 T
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     GX0396.p1chr6:
79655879-79655879		TCexonicMaternalnonsynonymous SNVNM_017934c.A4469Gp.N1490S2.7481.648E-5Guo2018 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
Wang2020 T
Wang2020 T
PHIP     ASD1165chr6:
79655086-79655086		GAexonicUnknownnonsynonymous SNVNM_017934c.C4759Tp.R1587C21.58.238E-6Wang2020 T
PHIP     60757044chr6:
79724852-79724852		CTexonicUnknownnonsynonymous SNVNM_017934c.G1471Ap.V491M18.51-Wang2020 T
Wang2020 T
PHIP     HEN0180.p1chr6:
79655763-79655763		TC/TexonicPaternal--Guo2018 T
PHIP     HEN0310.p1chr6:
79672862-79672862		CC/TexonicPaternal--Guo2018 T
PHIP     327904chr6:
79650649-79650649		GAexonicInherited, UnknownstopgainNM_017934c.C5227Tp.R1743X41.0-Stessman2017 T
Wang2020 T
Wang2020 T
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
PHIP     1-0395-004chr6:
79675895-79675895		CAintronicDe novo--Yuen2017 G
PHIP     MR432chr6:
79726310-79726310		GAexonicDe novostopgainNM_017934c.C1186Tp.R396X39.0-Satterstrom2020 E
Source Variant Information

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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.
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