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Results for "CEP112"

Variant Events: 22

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
CEP112     AU059903chr17:
63768637-63768637
TCintronicDe novo--Yuen2017 G
CEP112     1-0395-004chr17:
64176997-64176997
ATintronicDe novo--Yuen2017 G
CEP112     1-0395-003chr17:
64176997-64176997
ATintronicDe novo--Yuen2017 G
CEP112     1-0534-006chr17:
63966830-63966830
GGTATATCACGTintronicDe novo--Yuen2017 G
CEP112     12834.p1chr17:
64188316-64188316
TAupstreamDe novo--Wilfert2021 G
CEP112     3-0396-000chr17:
63684763-63684763
AGintronicDe novo--Yuen2016 G
CEP112     1-0572-003chr17:
63902530-63902549
TATAATAATAATAATAATAATATAATAATAATAATAAintronicDe novo--Yuen2017 G
CEP112     AU3154302chr17:
64045264-64045264
TGintronicDe novo--Yuen2017 G
CEP112     14153.p1chr17:
63959870-63959870
GAintronicDe novo--Turner2016 G
CEP112     1-0010-005chr17:
63966830-63966830
GGTATATCACGTintronicDe novo--Yuen2017 G
CEP112     13171.p1chr17:
64024365-64024365
TCintronicDe novo--Turner2016 G
CEP112     14642.p1chr17:
63737673-63737673
TCintronicDe novo--Turner2016 G
CEP112     2-1146-003chr17:
63640965-63640965
TAintronicDe novo--Yuen2017 G
CEP112     AU3881301chr17:
63662881-63662881
TCintronicDe novo--Yuen2017 G
CEP112     AU4315302chr17:
64025733-64025733
ACintronicDe novo--Yuen2017 G
CEP112     1-0300-004chr17:
63705523-63705523
GAintronicDe novo--Yuen2017 G
CEP112     1-0405-003chr17:
64055356-64055356
CTintronicDe novo--Yuen2017 G
CEP112     1-0482-003chr17:
63926567-63926567
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CEP112     2-1246-003chr17:
63754225-63754225
TAintronicDe novo--Yuen2017 G
CEP112     AU4168306chr17:
64097186-64097186
CAintronicDe novo--Yuen2017 G
CEP112     1-0563-004chr17:
63910979-63910979
CTintronicDe novo--Yuen2017 G
CEP112     63-343chr17:
64154717-64154717
GAintronicInherited--Michaelson2012 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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