Variant Results

or

Results for "LOC283177"

Variant Events: 45

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

LOC283177

2-1245-003

chr11:
134679926-134679926

A

C

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1114-003

chr11:
134353520-134353520

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC283177

AU3874302

chr11:
134577052-134577052

C

T

intergenic

De novo

-

Yuen2017 G

LOC283177

1-0325-003

chr11:
134798060-134798060

T

A

intergenic

De novo

-

Yuen2017 G

LOC283177

3D614

chr11:
134856266-134856301

CAGTGGAGACCCAGCTTGCAGTCCATCAGAGGCTGG

C

intergenic

De novo

-

Satterstrom2020 E

LOC283177

2-1231-003

chr11:
134554826-134554826

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC283177

1-0473-003

chr11:
134893158-134893158

G

A

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1267-003

chr11:
134639604-134639604

A

G

intergenic

De novo

-

Yuen2017 G

LOC283177

AU4186302

chr11:
134775141-134775141

C

A

intergenic

De novo

-

Yuen2017 G

LOC283177

1-0985-003

chr11:
134474770-134474770

T

C

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1358-003

chr11:
134364376-134364376

G

T

ncRNA_intronic

De novo

-

Yuen2017 G

LOC283177

2-1353-003

chr11:
134567932-134567932

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC283177

AU3801301

chr11:
134484916-134484916

C

T

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1283-003

chr11:
134582967-134582967

A

C

intergenic

De novo

-

Yuen2017 G

LOC283177

AU059903

chr11:
134794476-134794476

G

A

intergenic

De novo

-

Yuen2017 G

LOC283177

AU2100302

chr11:
134936937-134936937

A

G

intergenic

De novo

-

Yuen2017 G

LOC283177

13324.p1

chr11:
134935666-134935666

G

A

intergenic

De novo

-

Turner2016 G

LOC283177

AU4013302

chr11:
134535831-134535831

C

T

intergenic

De novo

-

Yuen2017 G

LOC283177

2-0307-004

chr11:
134407419-134407419

A

G

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1131-003

chr11:
134450004-134450004

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC283177

1-0405-003

chr11:
134893372-134893372

G

A

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1336-004

chr11:
134541026-134541026

G

A

intergenic

De novo

-

Yuen2017 G

LOC283177

1-0820-003

chr11:
134753090-134753090

G

T

intergenic

De novo

-

Yuen2017 G

LOC283177

2-0704-003

chr11:
134351179-134351179

G

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

LOC283177

2-0007-003

chr11:
134380270-134380270

A

G

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1577-003

chr11:
134731774-134731774

C

A

intergenic

De novo

-

Yuen2017 G

LOC283177

AU2293301

chr11:
134573425-134573425

G

T

intergenic

De novo

-

Yuen2017 G

LOC283177

AU4306302

chr11:
134783766-134783766

G

A

intergenic

De novo

-

Yuen2017 G

LOC283177

AU3885305

chr11:
134775269-134775269

G

T

intergenic

De novo

-

Yuen2017 G

LOC283177

A5

chr11:
134701690-134701690

A

AACAC

intergenic

De novo

-

Wu2018 G

LOC283177

AU0638302

chr11:
134451132-134451132

C

T

intergenic

De novo

-

Yuen2017 G

LOC283177

7-0135-003

chr11:
134844498-134844509

AAAGAAGAAGAA

AAAGAAGAAGAAGAA

intergenic

De novo

-

Yuen2017 G

LOC283177

1-0452-003

chr11:
134327619-134327622

GTAT

GT

ncRNA_intronic

De novo

-

Yuen2017 G

LOC283177

2-1283-004

chr11:
134582967-134582967

A

C

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1644-004

chr11:
134935831-134935831

G

T

intergenic

De novo

-

Yuen2017 G

LOC283177

AU074403

chr11:
134337175-134337175

A

G

ncRNA_exonic

De novo

-

Yuen2017 G

LOC283177

1-0285-003

chr11:
134513244-134513244

C

T

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1314-003

chr11:
134662117-134662117

C

T

intergenic

De novo

-

Yuen2016 G

LOC283177

1-0640-003

chr11:
134562383-134562383

T

C

intergenic

De novo

-

Yuen2017 G

LOC283177

1-0059-003

chr11:
134639807-134639809

AGG

A

intergenic

De novo

-

Yuen2017 G

LOC283177

AU045010

chr11:
134714958-134714958

A

C

intergenic

De novo

-

Yuen2017 G

LOC283177

2-1466-003

chr11:
134552328-134552328

T

TAAAAATC

intergenic

De novo

-

Yuen2016 G

LOC283177

1-0674-003

chr11:
134318726-134318726

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

LOC283177

1-0674-003

chr11:
134318724-134318724

C

A

ncRNA_intronic

De novo

-

Yuen2017 G

LOC283177

1-0674-003

chr11:
134318717-134318717

T

C

ncRNA_intronic

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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