or
or
Exact

Results for "CD82"

Variant Events: 21

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
CD82     7-0102-003chr11:
44646527-44646527
GAintergenicDe novo--Yuen2017 G
CD82     12418.p1chr11:
44636833-44636833
GAexonicMosaicsynonymous SNVNM_001024844
NM_002231
c.G273A
c.G348A
p.E91E
p.E116E
-0.2113Dou2017 E
CD82     2-1518-003chr11:
44632655-44632655
GTintronicDe novo--Yuen2017 G
CD82     PN400190chr11:
44626709-44626709
GAexonicUnknownnonsynonymous SNVNM_001024844
NM_002231
c.G238A
c.G238A
p.E80K
p.E80K
26.10.001Leblond2019 E
CD82     1-0006-004chr11:
44655328-44655340
AGGGCATGTGCAGAintergenicDe novo--Yuen2017 G
CD82     2-0198-004chr11:
44771561-44771569
CCTCCCCAACintergenicDe novo--Yuen2017 G
CD82     2-0127-004chr11:
44693932-44693932
CAintergenicDe novo--Yuen2017 G
CD82     AU3874301chr11:
44700512-44700512
GCintergenicDe novo--Yuen2017 G
CD82     PN400313chr11:
44626709-44626709
GAexonicUnknownnonsynonymous SNVNM_001024844
NM_002231
c.G238A
c.G238A
p.E80K
p.E80K
26.10.001Leblond2019 E
CD82     1-0006-003chr11:
44655328-44655340
AGGGCATGTGCAGAintergenicDe novo--Yuen2017 G
CD82     3-0065-000chr11:
44631017-44631017
CTintronicDe novo--Yuen2017 G
CD82     AU3517302chr11:
44736294-44736294
CTintergenicDe novo--Yuen2017 G
CD82     1-0112-003chr11:
44695828-44695828
AGintergenicDe novo--Yuen2017 G
CD82     AU3984301chr11:
44775994-44775994
GTintergenicDe novo--Yuen2017 G
CD82     2-1514-003chr11:
44645189-44645189
CTintergenicDe novo--Yuen2017 G
CD82     PN400439chr11:
44626709-44626709
GAexonicUnknownnonsynonymous SNVNM_001024844
NM_002231
c.G238A
c.G238A
p.E80K
p.E80K
26.10.001Leblond2019 E
CD82     1-0286-004chr11:
44618596-44618596
CGintronicDe novo--Yuen2017 G
CD82     11336.p1chr11:
44640274-44640274
GTsplicingMosaicsplicing9.902-Dou2017 E
CD82     2-0028-003chr11:
44702479-44702479
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CD82     AU065304chr11:
44706478-44706478
GAintergenicDe novo--Yuen2017 G
CD82     13346.p1chr11:
44640143-44640143
TGintronicDe novo-4.0E-4Satterstrom2020 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