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Results for "CEP152"

Variant Events: 48

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
CEP152     Li2017:19789chr15:
49048464-49048464		AGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.T2981C
c.T2981C		p.L994P
p.L994P		19.828.426E-6Li2017 T
CEP152     Li2017:20758chr15:
49034285-49034285		CTexonicUnknownnonsynonymous SNVNM_014985
NM_001194998		c.G3680A
c.G3848A		p.R1227H
p.R1283H		26.98.281E-6Li2017 T
CEP152     SP0063582chr15:
49059645-49059645		ACexonicDe novostopgainNM_001194998
NM_014985		c.T2034G
c.T2034G		p.Y678X
p.Y678X		39.03.0E-4Trost2022 G
Zhou2022 GE
CEP152     11959.p1chr15:
49054552-49054552		TGintronicDe novo-2.0E-4Satterstrom2020 E
CEP152     SP0011684chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0042387chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     mAGRE4898chr15:
49064889-49064889		CTsplicingPaternalsplicing13.862.49E-5Cirnigliaro2023 G
CEP152     mAGRE2614chr15:
49061152-49061152		CAsplicingMaternalsplicing17.61.0E-4Cirnigliaro2023 G
CEP152     mAGRE1495chr15:
49061152-49061152		CAsplicingPaternalsplicing17.61.0E-4Cirnigliaro2023 G
CEP152     mAGRE1418chr15:
49048486-49048486		GAexonicPaternalstopgainNM_001194998
NM_014985		c.C2959T
c.C2959T		p.R987X
p.R987X		42.08.514E-6Cirnigliaro2023 G
CEP152     Li2017:17677chr15:
49048480-49048480		TGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.A2965C
c.A2965C		p.K989Q
p.K989Q		22.1-Li2017 T
CEP152     AU1542303chr15:
49040795-49040796		ACAexonicPaternalframeshift deletionNM_001194998c.3478delGp.V1160fs--Cirnigliaro2023 G
CEP152     AU1542301chr15:
49040795-49040796		ACAexonicPaternalframeshift deletionNM_001194998c.3478delGp.V1160fs--Cirnigliaro2023 G
CEP152     mAGRE5304chr15:
49031139-49031143		GTCTTGexonicPaternalframeshift deletionNM_014985
NM_001194998		c.4268_4271del
c.4436_4439del		p.K1423fs
p.K1479fs		--Cirnigliaro2023 G
CEP152     Li2017:16274chr15:
49088308-49088308		GAexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.C590T
c.C590T		p.P197L
p.P197L		21.43.313E-5Li2017 T
CEP152     1-0606-003chr15:
49066174-49066174		AGintronicDe novo--Trost2022 G
Yuen2017 G
CEP152     SP0102689chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0016873chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     Li2017:21837chr15:
49048380-49048380		TCexonicDe novononsynonymous SNVNM_001194998
NM_014985		c.A3065G
c.A3065G		p.Q1022R
p.Q1022R		22.2-Li2017 T
CEP152     SP0083010chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0089939chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0050346chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0078695chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0042579chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0019186chr15:
49076091-49076091		CTintronicDe novo--Fu2022 E
CEP152     SP0044569chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     7-0427-003chr15:
49069677-49069695		GTGTGTGTGTGTGTGTGTCGintronicDe novo--Trost2022 G
CEP152     MSSNG00044-003chr15:
49093573-49093573		AGintronicDe novo--Trost2022 G
CEP152     5901chr15:
49054552-49054552		TGintronicDe novo-2.0E-4Trost2022 G
CEP152     13543.p1chr15:
49108970-49108970		AGintergenicDe novo--Turner2016 G
CEP152     REACH000686chr15:
49067416-49067416		CGintronicDe novo--Trost2022 G
CEP152     5-5123-003chr15:
49038052-49038053		CACintronicDe novo--Trost2022 G
CEP152     5-5021-003chr15:
49038261-49038261		AGintronicDe novo--Trost2022 G
CEP152     SP0181905chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     SP0189517chr15:
49033327-49033327		CTintronicDe novo--Trost2022 G
CEP152     AU-3200chr15:
49054766-49054766		GAexonicInheritednonsynonymous SNVNM_001194998
NM_014985		c.C2384T
c.C2384T		p.T795I
p.T795I		18.7-Yu2013 E
CEP152     Al-Mubarak2017:ASD-69chr15:
49064748-49064748		TGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.A1718C
c.A1718C		p.D573A
p.D573A		19.74-Al-Mubarak2017 E
CEP152     Li2017:17475chr15:
49064848-49064848		CTexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.G1618A
c.G1618A		p.D540N
p.D540N		33.0-Li2017 T
CEP152     MCD-033-3chr15:
49059572-49059572		GCexonicPaternalnonsynonymous SNVNM_001194998
NM_014985		c.C2107G
c.C2107G		p.Q703E
p.Q703E		15.63-Tuncay2023 G
CEP152     Li2017:18464chr15:
49097845-49097845		AGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.T2C
c.T2C		p.M1T
p.M1T		18.43-Li2017 T
CEP152     SP0064773chr15:
49064925-49064925		GTintronicDe novo--Fu2022 E
CEP152     3-0431-000chr15:
49071886-49071886		AGintronicDe novo--Yuen2017 G
CEP152     SP0030596chr15:
49034148-49034148		CGexonicDe novononsynonymous SNVNM_014985
NM_001194998		c.G3817C
c.G3985C		p.E1273Q
p.E1329Q		20.1-Fu2022 E
Trost2022 G
Zhou2022 GE
CEP152     1-0384-003chr15:
49096007-49096007		TCintronicDe novo--Trost2022 G
Yuen2017 G
CEP152     iHART2202chr15:
49040795-49040796		ACAexonicPaternalframeshift deletionNM_001194998c.3478delGp.V1160fs--Ruzzo2019 G
CEP152     iHART2200chr15:
49040795-49040796		ACAexonicPaternalframeshift deletionNM_001194998c.3478delGp.V1160fs--Ruzzo2019 G
CEP152     iHART1418chr15:
49048486-49048486		GAexonicPaternalstopgainNM_001194998
NM_014985		c.C2959T
c.C2959T		p.R987X
p.R987X		42.08.514E-6Ruzzo2019 G
CEP152     MCD-033-3chr15:
49031378-49031378		TGexonicMaternalnonsynonymous SNVNM_014985
NM_001194998		c.A4033C
c.A4201C		p.T1345P
p.T1401P		15.25-Tuncay2023 G
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
Curation notesView
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