Variant Results

or

Results for "CCSER2"

Variant Events: 39

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

CCSER2

74-0265

chr10:
86147840-86147840

C

T

intronic

Inherited

-

Michaelson2012 G

CCSER2

1-0225-003

chr10:
86650394-86650394

G

C

intergenic

De novo

-

Yuen2017 G

CCSER2

2-1146-003

chr10:
86129784-86129784

A

G

intronic

De novo

-

Yuen2017 G

CCSER2

AU072005

chr10:
86560265-86560265

C

A

intergenic

De novo

-

Yuen2017 G

CCSER2

A10

chr10:
86149434-86149434

T

C

intronic

De novo

-

Wu2018 G

CCSER2

2-1117-003

chr10:
86906637-86906637

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCSER2

AU1952305

chr10:
86347570-86347570

T

G

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0436-003

chr10:
86751100-86751100

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCSER2

2-1212-003

chr10:
86421917-86421917

G

T

intergenic

De novo

-

Yuen2017 G

CCSER2

13949.p1

chr10:
86131229-86131229

A

G

exonic

De novo

nonsynonymous SNV

NM_001284240
NM_001284241
NM_018999

c.A421G
c.A421G
c.A421G

p.K141E
p.K141E
p.K141E

17.85

-

Lim2017 E

CCSER2

iHART2845

chr10:
86230175-86230176

GA

G

exonic

Paternal

frameshift deletion

NM_001284242
NM_001284243
NM_001284240
NM_018999

c.478delA
c.478delA
c.2197delA
c.2197delA

p.K160fs
p.K160fs
p.K733fs
p.K733fs

-

Ruzzo2019 G

CCSER2

2-1265-003

chr10:
86235542-86235542

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CCSER2

AU3646301

chr10:
86199604-86199604

G

A

intronic

De novo

-

Yuen2017 G

CCSER2

1-0385-003

chr10:
86883818-86883818

G

A

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0144-005

chr10:
86358776-86358776

T

TGTTAG

intergenic

De novo

-

Yuen2017 G

CCSER2

AU4372309

chr10:
86209037-86209037

G

A

intronic

De novo

-

Yuen2017 G

CCSER2

2-1277-004

chr10:
86263806-86263809

ATAT

A

intronic

De novo

-

Yuen2017 G

CCSER2

1-0006-004

chr10:
86494595-86494595

A

G

intergenic

De novo

-

Yuen2017 G

CCSER2

2-0081-003

chr10:
86949560-86949560

C

T

intergenic

De novo

-

Yuen2017 G

CCSER2

AU028305

chr10:
86467613-86467613

A

G

intergenic

De novo

-

Yuen2017 G

CCSER2

AU076705

chr10:
86109012-86109012

G

A

intronic

De novo

-

Yuen2017 G

CCSER2

2-0320-003

chr10:
86100155-86100155

C

T

intronic

De novo

-

Yuen2017 G

CCSER2

2-1522-003

chr10:
86535239-86535241

CAT

C

intergenic

De novo

-

Yuen2017 G

CCSER2

AU3907302

chr10:
86218173-86218173

C

T

intronic

De novo

-

Yuen2017 G

CCSER2

SP0107096

chr10:
86131730-86131730

G

A

exonic

De novo

nonsynonymous SNV

NM_001284240
NM_001284241
NM_018999

c.G922A
c.G922A
c.G922A

p.G308S
p.G308S
p.G308S

6.595

-

Fu2022 E

CCSER2

1-0804-003

chr10:
86700809-86700809

A

G

intergenic

De novo

-

Yuen2017 G

CCSER2

2-1362-004

chr10:
86807458-86807458

A

C

intergenic

De novo

-

Yuen2017 G

CCSER2

2-0043-003

chr10:
86230924-86230927

TATC

T

intronic

De novo

-

Yuen2016 G

CCSER2

AU3763305

chr10:
86563293-86563295

CAA

CAAA

intergenic

De novo

-

Yuen2017 G

CCSER2

AU3787303

chr10:
86450749-86450749

T

C

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0484-003

chr10:
86922101-86922101

G

T

intergenic

De novo

-

Yuen2017 G

CCSER2

AU079605

chr10:
86440538-86440542

CTTCT

C

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0401-003

chr10:
86460946-86460946

T

G

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0918-003

chr10:
86505978-86505978

A

T

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0401-003

chr10:
86104068-86104068

T

C

intronic

De novo

-

Yuen2017 G

CCSER2

1-0303-003

chr10:
86161615-86161615

G

A

intronic

De novo

-

Yuen2017 G

CCSER2

2-1163-003

chr10:
86796951-86796951

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CCSER2

2-0296-004

chr10:
86361757-86361757

G

C

intergenic

De novo

-

Yuen2017 G

CCSER2

1-0446-003

chr10:
86647902-86647902

T

C

intergenic

De novo

-

Yuen2017 G

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 notes	View
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