Variant Results

or

or

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

7-0102-003

chr11:
44646527-44646527

G

A

intergenic

De novo

-

-

Yuen2017 G

CD82

12418.p1

chr11:
44636833-44636833

G

A

exonic

Mosaic

synonymous SNV

NM_001024844
NM_002231

c.G273A
c.G348A

p.E91E
p.E116E

-

Dou2017 E

CD82

2-1518-003

chr11:
44632655-44632655

G

T

intronic

De novo

-

-

Yuen2017 G

CD82

PN400190

chr11:
44626709-44626709

G

A

exonic

Unknown

nonsynonymous SNV

NM_001024844
NM_002231

c.G238A
c.G238A

p.E80K
p.E80K

26.1

Leblond2019 E

CD82

1-0006-004

chr11:
44655328-44655340

AGGGCATGTGCAG

A

intergenic

De novo

-

-

Yuen2017 G

CD82

2-0198-004

chr11:
44771561-44771569

CCTCCCCAA

C

intergenic

De novo

-

-

Yuen2017 G

CD82

2-0127-004

chr11:
44693932-44693932

C

A

intergenic

De novo

-

-

Yuen2017 G

CD82

AU3874301

chr11:
44700512-44700512

G

C

intergenic

De novo

-

-

Yuen2017 G

CD82

PN400313

chr11:
44626709-44626709

G

A

exonic

Unknown

nonsynonymous SNV

NM_001024844
NM_002231

c.G238A
c.G238A

p.E80K
p.E80K

26.1

Leblond2019 E

CD82

1-0006-003

chr11:
44655328-44655340

AGGGCATGTGCAG

A

intergenic

De novo

-

-

Yuen2017 G

CD82

3-0065-000

chr11:
44631017-44631017

C

T

intronic

De novo

-

-

Yuen2017 G

CD82

AU3517302

chr11:
44736294-44736294

C

T

intergenic

De novo

-

-

Yuen2017 G

CD82

1-0112-003

chr11:
44695828-44695828

A

G

intergenic

De novo

-

-

Yuen2017 G

CD82

AU3984301

chr11:
44775994-44775994

G

T

intergenic

De novo

-

-

Yuen2017 G

CD82

2-1514-003

chr11:
44645189-44645189

C

T

intergenic

De novo

-

-

Yuen2017 G

CD82

PN400439

chr11:
44626709-44626709

G

A

exonic

Unknown

nonsynonymous SNV

NM_001024844
NM_002231

c.G238A
c.G238A

p.E80K
p.E80K

26.1

Leblond2019 E

CD82

1-0286-004

chr11:
44618596-44618596

C

G

intronic

De novo

-

-

Yuen2017 G

CD82

11336.p1

chr11:
44640274-44640274

G

T

splicing

Mosaic

splicing

9.902

-

Dou2017 E

CD82

2-0028-003

chr11:
44702479-44702479

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CD82

AU065304

chr11:
44706478-44706478

G

A

intergenic

De novo

-

-

Yuen2017 G

CD82

13346.p1

chr11:
44640143-44640143

T

G

intronic

De novo

-

Satterstrom2020 E

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 notes	View
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