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Results for "CEP152"

Variant Events: 20

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     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     Li2017:19789chr15:
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     Li2017:17475chr15:
49064848-49064848		CTexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.G1618A
c.G1618A		p.D540N
p.D540N		33.0-Li2017 T
CEP152     11959.p1chr15:
49054552-49054552		TGintronicDe novo-2.0E-4Satterstrom2020 E
CEP152     Li2017:17677chr15:
49048480-49048480		TGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.A2965C
c.A2965C		p.K989Q
p.K989Q		22.1-Li2017 T
CEP152     Li2017:16274chr15:
49088308-49088308		GAexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.C590T
c.C590T		p.P197L
p.P197L		21.43.313E-5Li2017 T
CEP152     Li2017:18464chr15:
49097845-49097845		AGexonicUnknownnonsynonymous SNVNM_001194998
NM_014985		c.T2C
c.T2C		p.M1T
p.M1T		18.43-Li2017 T
CEP152     1-0606-003chr15:
49066174-49066174		AGintronicDe novo--Yuen2017 G
CEP152     SP0064773chr15:
49064925-49064925		GTintronicDe novo--Fu2022 E
CEP152     Li2017:21837chr15:
49048380-49048380		TCexonicDe novononsynonymous SNVNM_001194998
NM_014985		c.A3065G
c.A3065G		p.Q1022R
p.Q1022R		22.2-Li2017 T
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
CEP152     SP0019186chr15:
49076091-49076091		CTintronicDe novo--Fu2022 E
CEP152     1-0384-003chr15:
49096007-49096007		TCintronicDe novo--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     13543.p1chr15:
49108970-49108970		AGintergenicDe novo--Turner2016 G
CEP152     iHART1418chr15:
49048486-49048486		GAexonicPaternalstopgainNM_001194998
NM_014985		c.C2959T
c.C2959T		p.R987X
p.R987X		42.08.514E-6Ruzzo2019 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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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