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Results for "CCBE1"

Variant Events: 30

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
CCBE1     2-0088-003chr18:
57297601-57297601
GAintronicDe novo--Yuen2017 G
CCBE1     1-0354-006chr18:
57252158-57252158
ATintronicDe novo--Yuen2017 G
CCBE1     AU4235302chr18:
57340806-57340806
AGintronicDe novo--Yuen2017 G
CCBE1     iHART1357chr18:
57103167-57103167
CCAexonicMaternalframeshift insertionNM_133459c.1193dupTp.L398fs--Ruzzo2019 G
CCBE1     iHART1356chr18:
57103167-57103167
CCAexonicMaternalframeshift insertionNM_133459c.1193dupTp.L398fs--Ruzzo2019 G
CCBE1     AU4237304chr18:
57259044-57259044
GAintronicDe novo--Yuen2017 G
CCBE1     2-0309-004chr18:
57141112-57141112
TTATTTCCTCCintronicDe novo--Yuen2017 G
CCBE1     AU3853302chr18:
57496070-57496070
GAintergenicDe novo--Yuen2017 G
CCBE1     AU4231301chr18:
57333856-57333856
GAintronicDe novo--Yuen2017 G
CCBE1     09C92999chr18:
57136822-57136822
CTexonicDe novononsynonymous SNVNM_133459c.G283Ap.E95K13.811.648E-5Satterstrom2020 E
CCBE1     1-0459-003chr18:
57200972-57200972
AGintronicDe novo--Yuen2017 G
CCBE1     5-0111-003chr18:
57550267-57550267
GCintergenicDe novo--Yuen2017 G
CCBE1     2-1562-003chr18:
57144172-57144172
TAintronicDe novo--Yuen2017 G
CCBE1     7-0119-003chr18:
57215296-57215296
GAintronicDe novo--Yuen2017 G
CCBE1     3-0431-000chr18:
57179929-57179929
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CCBE1     1-0539-003chr18:
57448785-57448785
GGAGGTCintergenicDe novo--Yuen2017 G
CCBE1     7-0250-003chr18:
57375125-57375125
CTintergenicDe novo--Yuen2017 G
CCBE1     AU2215302chr18:
57144927-57144927
AGintronicDe novo--Yuen2017 G
CCBE1     1-0991-003chr18:
57104242-57104248
TTAAAATTTintronicDe novo--Yuen2017 G
CCBE1     AU4007301chr18:
57394984-57394984
ACintergenicDe novo--Yuen2017 G
CCBE1     1-0045-004chr18:
57414768-57414768
CAintergenicDe novo--Yuen2017 G
CCBE1     1-0443-003chr18:
57102882-57102882
GAUTR3De novo--Yuen2016 G
CCBE1     PN400117chr18:
57363910-57363910
TCexonicDe novononsynonymous SNVNM_133459c.A163Gp.T55A17.84-Leblond2019 E
CCBE1     AU3811305chr18:
57371708-57371708
AGintergenicDe novo--Yuen2017 G
CCBE1     AU024105chr18:
57554610-57554612
ACCACintergenicDe novo--Yuen2017 G
CCBE1     7-0129-003chr18:
57131628-57131628
CGintronicDe novo--Yuen2017 G
CCBE1     AU1795303chr18:
57125790-57125790
GAintronicDe novo--Yuen2017 G
CCBE1     1-0067-004chr18:
57149375-57149375
CTintronicDe novo--Yuen2017 G
CCBE1     2-1140-003chr18:
57214600-57214600
GAintronicDe novo--Yuen2017 G
CCBE1     AU3076302chr18:
57432244-57432244
GTintergenicDe novo--Yuen2017 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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