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Results for "CORO2B"

Variant Events: 10

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
CORO2B     1-0112-003chr15:
68880346-68880346
CTintronicDe novo--Yuen2017 G
CORO2B     SP0028603chr15:
69011138-69011138
GAexonicDe novononsynonymous SNVNM_001190456
NM_001190457
NM_006091
c.G1054A
c.G1054A
c.G1069A
p.V352M
p.V352M
p.V357M
25.28.437E-6Feliciano2019 E
CORO2B     2-1738-003chr15:
68903478-68903478
CTintronicDe novo--Yuen2017 G
CORO2B     5-0040-003chr15:
69046969-69046969
CTintergenicDe novo--Yuen2017 G
CORO2B     1-0259-003chr15:
68924544-68924544
ACUTR5De novo--Yuen2017 G
CORO2B     AU000704chr15:
69006261-69006267
TAGGAGGTAGGexonicDe novononframeshift deletionNM_001190456
NM_001190457
NM_006091
c.635_637del
c.635_637del
c.650_652del
p.212_213del
p.212_213del
p.217_218del
--Yuen2017 G
CORO2B     1-0408-003chr15:
68875106-68875106
GCintronicDe novo--Yuen2016 G
Yuen2017 G
CORO2B     AU4223302chr15:
69014376-69014376
GCintronicDe novo--Yuen2017 G
CORO2B     AU4246304chr15:
69020017-69020017
AGUTR3De novo--Yuen2017 G
CORO2B     AU0780302chr15:
68876060-68876060
CTintronicDe 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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