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Results for "CD276"

Variant Events: 8

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
CD276     12449.p1chr15:
74024070-74024070
GCintergenicDe novo--Turner2016 G
CD276     Li2017:23062chr15:
73996752-73996752
CGexonicUnknownstopgainNM_025240
NM_001024736
c.C654G
c.C1308G
p.Y218X
p.Y436X
27.0-Li2017 T
CD276     AU3911302chr15:
73977127-73977127
GAintronicDe novo--Yuen2017 G
CD276     Li2017:20758chr15:
73995249-73995251
CCTCexonicUnknownframeshift deletionNM_001024736c.556_557delp.L186fs-1.66E-5Li2017 T
CD276     1-0206-003chr15:
73983335-73983335
ATintronicDe novo--Yuen2017 G
CD276     Li2017:17615chr15:
74003481-74003481
CTexonicUnknownstopgainNM_025240
NM_001024736
c.C898T
c.C1552T
p.Q300X
p.Q518X
34.0-Li2017 T
CD276     iHART3132chr15:
74000785-74000789
TCAAATexonicMaternalframeshift deletionNM_025240
NM_001024736
c.822_825del
c.1476_1479del
p.I274fs
p.I492fs
-5.16E-5Ruzzo2019 G
CD276     iHART1629chr15:
73995249-73995251
CCTCexonicPaternalframeshift deletionNM_001024736c.556_557delp.L186fs-1.66E-5Ruzzo2019 G
Source Variant Information

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Source:

Paper alias:

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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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