Variant Results

or

or

Results for "LOC285762"

Variant Events: 28

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

LOC285762

AU2793303

chr6:
120004364-120004364

C

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU3806304

chr6:
119809456-119809459

GAAA

GAAAA

ncRNA_intronic

De novo

-

-

Yuen2017 G

LOC285762

1-0383-003

chr6:
119989027-119989054

AAAACAAACAAACAAACAAACAAACAAA

AAAACAAACAAACAAACAAACAAA

intergenic

De novo

-

-

Yuen2017 G

LOC285762

2-1428-003

chr6:
120297715-120297715

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

LOC285762

2-0319-003

chr6:
120269056-120269056

C

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

5-0055-003

chr6:
119948882-119948882

A

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU046706

chr6:
119999602-119999602

G

C

intergenic

De novo

-

-

Yuen2017 G

LOC285762

7-0253-004

chr6:
120156655-120156655

G

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU046706

chr6:
120033191-120033196

GGTTCC

G

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0277-003

chr6:
120024034-120024034

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

LOC285762

1-0186-004

chr6:
120213920-120213920

A

G

intergenic

De novo

-

-

Yuen2017 G

LOC285762

A15

chr6:
120316528-120316528

A

T

intergenic

De novo

-

-

Wu2018 G

LOC285762

AU2793301

chr6:
120292817-120292817

A

C

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU005214

chr6:
119969512-119969512

G

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0756-004

chr6:
120082181-120082181

C

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

2-1235-003

chr6:
120032067-120032067

C

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU4033305

chr6:
119918895-119918895

G

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0025-004

chr6:
119949138-119949141

TGAA

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU3862305

chr6:
120227287-120227287

T

C

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU4412302

chr6:
120126275-120126275

C

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU3506303

chr6:
120179513-120179513

C

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0706-003

chr6:
120094044-120094044

A

G

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0104-004

chr6:
119854088-119854088

G

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU3906301

chr6:
120048972-120048972

A

T

intergenic

De novo

-

-

Yuen2017 G

LOC285762

AU4013301

chr6:
120015999-120015999

C

A

intergenic

De novo

-

-

Yuen2017 G

LOC285762

2-1358-003

chr6:
120005438-120005438

G

C

intergenic

De novo

-

-

Yuen2017 G

LOC285762

1-0004-003

chr6:
119798535-119798535

G

A

ncRNA_intronic

De novo

-

-

Yuen2017 G

LOC285762

AU2433302

chr6:
119975034-119975034

C

A

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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