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Results for "CEP170B"

Variant Events: 15

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
CEP170B     5-0106-003chr14:
105380179-105380179
GAintergenicDe novo--Yuen2017 G
CEP170B     2-1291-003chr14:
105354151-105354151
GAexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.G3365A
c.G3575A
p.R1122H
p.R1192H
16.311.0E-4Jiang2013 G
Yuen2016 G
CEP170B     3D630chr14:
105350929-105350929
GGAintronicDe novo--Satterstrom2020 E
CEP170B     5-0083-003chr14:
105348753-105348753
GAintronicDe novo--Yuen2017 G
CEP170B     13808.p1chr14:
105351707-105351707
TGexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.T1562G
c.T1772G
p.V521G
p.V591G
17.89-Satterstrom2020 E
CEP170B     08C74732chr14:
105350824-105350824
TAexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.T1498A
c.T1708A
p.Y500N
p.Y570N
17.69-Fu2022 E
Satterstrom2020 E
CEP170B     14076.p1chr14:
105354158-105354158
CGexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.C3372G
c.C3582G
p.S1124R
p.S1194R
10.66-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CEP170B     09C99833chr14:
105354151-105354151
GAexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.G3365A
c.G3575A
p.R1122H
p.R1192H
16.311.0E-4Fu2022 E
Satterstrom2020 E
CEP170B     2-1269-003chr14:
105346547-105346547
ACintronicDe novo--Yuen2016 G
Yuen2017 G
CEP170B     SP0080918chr14:
105351949-105351949
GAintronicDe novo--Fu2022 E
CEP170B     1-0452-003chr14:
105353348-105353348
GAexonicDe novosynonymous SNVNM_015005
NM_001112726
c.G2562A
c.G2772A
p.L854L
p.L924L
--Yuen2016 G
Yuen2017 G
CEP170B     SP0046890chr14:
105353924-105353924
CAexonicDe novosynonymous SNVNM_015005
NM_001112726
c.C3138A
c.C3348A
p.S1046S
p.S1116S
--Fu2022 E
CEP170B     14076_p1chr14:
105354158-105354158
CGexonicDe novononsynonymous SNVNM_015005
NM_001112726
c.C3372G
c.C3582G
p.S1124R
p.S1194R
10.66-Fu2022 E
CEP170B     1057_17auchr14:
105344683-105344683
CTintronicDe novo--Fu2022 E
CEP170B     SP0065253chr14:
105350241-105350241
GCexonicDe novosynonymous SNVNM_015005
NM_001112726
c.G915C
c.G1125C
p.V305V
p.V375V
--Fu2022 E
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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