Variant Results

or

Results for "C11orf87"

Variant Events: 37

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

C11orf87

2-1178-003

chr11:
109312728-109312728

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

C11orf87

AU012804

chr11:
109412237-109412237

C

T

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1350-003

chr11:
109514301-109514301

C

T

intergenic

De novo

-

Yuen2017 G

C11orf87

AU2140305

chr11:
109957383-109957383

G

A

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1306-003

chr11:
109601452-109601453

GC

G

intergenic

De novo

-

Yuen2017 G

C11orf87

AU4314302

chr11:
109363976-109363976

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

PN400540

chr11:
109294695-109294695

C

T

exonic

De novo

synonymous SNV

NM_207645

c.C336T

p.G112G

-

8.307E-6

Leblond2019 E

C11orf87

1-0112-004

chr11:
109892101-109892101

A

C

intergenic

De novo

-

Yuen2017 G

C11orf87

3-0661-000

chr11:
109500085-109500089

TAAAA

T

intergenic

De novo

-

Yuen2017 G

C11orf87

A30

chr11:
109690127-109690127

G

A

intergenic

De novo

-

Wu2018 G

C11orf87

AU4159302

chr11:
109602212-109602212

C

A

intergenic

De novo

-

Yuen2017 G

C11orf87

7-0249-004

chr11:
109439998-109439998

G

C

intergenic

De novo

-

Yuen2017 G

C11orf87

AU0146301

chr11:
109721963-109721963

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

AU056604

chr11:
109887947-109887953

TAGACAG

TAG

intergenic

De novo

-

Yuen2017 G

C11orf87

AU074503

chr11:
109318949-109318949

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

1-0629-003

chr11:
109747077-109747079

TAA

TAAA

intergenic

De novo

-

Yuen2017 G

C11orf87

AU1955302

chr11:
109435797-109435806

CCTGTTGGAC

CC

intergenic

De novo

-

Yuen2017 G

C11orf87

2-0503-004

chr11:
109758999-109758999

C

A

intergenic

De novo

-

Yuen2017 G

C11orf87

5-0017-004

chr11:
109774932-109774932

T

TA

intergenic

De novo

-

Yuen2017 G

C11orf87

7-0161-003

chr11:
109617775-109617775

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

MSSNG00327-003

chr11:
109295081-109295082

TC

T

UTR3

De novo

-

Trost2022 G

C11orf87

1-0171-005

chr11:
109340440-109340440

G

A

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1297-003

chr11:
109728589-109728589

G

A

intergenic

De novo

-

Yuen2017 G

C11orf87

7-0192-003

chr11:
109375647-109375647

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

2-0223-003

chr11:
109670920-109670920

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

1-0435-003

chr11:
109960732-109960732

C

T

intergenic

De novo

-

Yuen2017 G

C11orf87

A10

chr11:
109852841-109852841

G

C

intergenic

De novo

-

Wu2018 G

C11orf87

2-0109-003

chr11:
109423485-109423485

G

T

intergenic

De novo

-

Yuen2017 G

C11orf87

1-0901-003

chr11:
109779754-109779754

A

T

intergenic

De novo

-

Yuen2017 G

C11orf87

AU046904

chr11:
109615463-109615463

G

A

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1112-003

chr11:
109805000-109805000

C

T

intergenic

De novo

-

Yuen2017 G

C11orf87

2-0503-003

chr11:
109758999-109758999

C

A

intergenic

De novo

-

Yuen2017 G

C11orf87

AU072505

chr11:
109365466-109365466

T

C

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1185-003

chr11:
109892202-109892202

C

T

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1645-003

chr11:
109449187-109449187

A

G

intergenic

De novo

-

Yuen2017 G

C11orf87

2-0270-004

chr11:
109831243-109831243

G

A

intergenic

De novo

-

Yuen2017 G

C11orf87

2-1306-004

chr11:
109601452-109601453

GC

G

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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