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Results for "CEP152"

Variant Events: 17

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     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     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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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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