or
or
Exact

Results for "CEP131"

Variant Events: 9

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
CEP131     2-0149-005chr17:
79197956-79197956
CTintergenicDe novo--Yuen2017 G
CEP131     iHART1076chr17:
79176103-79176103
TTCCexonicPaternalframeshift insertionNM_001009811
NM_014984
c.724_725insGG
c.724_725insGG
p.N242fs
p.N242fs
--Ruzzo2019 G
CEP131     12607.p1chr17:
79170813-79170813
AACCCCAGCTCCAGGGGexonicDe novononframeshift insertionNM_001009811
NM_014984
c.1689_1690insCCCCTGGAGCTGGGG
c.1689_1690insCCCCTGGAGCTGGGG
p.S564delinsPLELGS
p.S564delinsPLELGS
--Satterstrom2020 E
CEP131     EGAN00001100956chr17:
79177417-79177417
CAintronicDe novo--Satterstrom2020 E
CEP131     iHART1075chr17:
79176103-79176103
TTCCexonicPaternalframeshift insertionNM_001009811
NM_014984
c.724_725insGG
c.724_725insGG
p.N242fs
p.N242fs
--Ruzzo2019 G
CEP131     iHART1220chr17:
79163601-79163601
GAexonicMaternalstopgainNM_001009811
NM_014984
c.C3103T
c.C3211T
p.Q1035X
p.Q1071X
18.788.361E-6Ruzzo2019 G
CEP131     2-1206-003chr17:
79165137-79165143
TGGGGGGTGGGGGintronicDe novo--Yuen2017 G
CEP131     MT_109chr17:
79171545-79171545
CGexonicPaternalnonsynonymous SNVNM_001009811
NM_014984
c.G1614C
c.G1614C
p.K538N
p.K538N
17.01-Toma2013 E
CEP131     08C75470chr17:
79165137-79165138
TGTintronicDe novo--Satterstrom2020 E
Source Variant Information

, -

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
More