Variant Results

or

or

Results for "LPP"

Variant Events: 35

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

LPP

1-0112-003

chr3:
188172393-188172396

GGAA

G

intronic

De novo

-

-

Yuen2017 G

LPP

1-0986-003

chr3:
188491783-188491783

T

G

intronic

De novo

-

-

Yuen2017 G

LPP

2-1626-003

chr3:
187936093-187936093

T

C

intronic

De novo

-

-

Yuen2017 G

LPP

1-0465-003a

chr3:
188635305-188635305

C

T

intergenic

De novo

-

-

Yuen2017 G

LPP

AU4183301

chr3:
187884065-187884065

A

T

intronic

De novo

-

-

Yuen2017 G

LPP

2-0142-004

chr3:
188387592-188387592

G

A

intronic

De novo

-

-

Yuen2017 G

LPP

AU050910

chr3:
187955106-187955106

G

T

intronic

De novo

-

-

Yuen2017 G

LPP

13649.p1

chr3:
188390698-188390698

A

G

intronic

De novo

-

-

Turner2016 G

LPP

2-1280-003

chr3:
188546359-188546359

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LPP

2-1094-004

chr3:
188010329-188010329

G

A

intronic

De novo

-

-

Yuen2017 G

LPP

14370.p1

chr3:
187921770-187921770

T

C

intronic

De novo

-

-

Turner2016 G

LPP

1-0539-003

chr3:
188522773-188522773

T

C

intronic

De novo

-

-

Yuen2017 G

LPP

AU3760302

chr3:
188370774-188370774

A

G

intronic

De novo

-

-

Yuen2017 G

LPP

3-0432-000

chr3:
188640955-188640955

C

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

LPP

AU2108302

chr3:
188634282-188634282

C

T

intergenic

De novo

-

-

Yuen2017 G

LPP

A1

chr3:
187881835-187881835

T

C

intronic

De novo

-

-

Wu2018 G

LPP

2-1265-003

chr3:
187980520-187980533

TCACACACACACAC

TCACACACACAC

intronic

De novo

-

-

Yuen2017 G

LPP

1-0043-004

chr3:
188361542-188361542

C

T

intronic

De novo

-

-

Yuen2017 G

LPP

5-0042-003

chr3:
188445987-188445987

C

T

intronic

De novo

-

-

Yuen2017 G

LPP

1-0465-003

chr3:
188635305-188635305

C

T

intergenic

De novo

-

-

Yuen2017 G

LPP

2-1633-003

chr3:
188271840-188271840

C

A

intronic

De novo

-

-

Yuen2017 G

LPP

AU3782303

chr3:
188197785-188197785

G

A

intronic

De novo

-

-

Yuen2017 G

LPP

1-0534-006

chr3:
188299194-188299194

G

C

intronic

De novo

-

-

Yuen2017 G

LPP

AU074503

chr3:
188375457-188375457

T

C

intronic

De novo

-

-

Yuen2017 G

LPP

AU1223303

chr3:
187935972-187935972

G

A

intronic

De novo

-

-

Yuen2017 G

LPP

2-1741-003

chr3:
188525516-188525516

T

C

intronic

De novo

-

-

Yuen2017 G

LPP

AU3761302

chr3:
188241441-188241445

CTTTT

CTT

intronic

De novo

-

-

Yuen2017 G

LPP

AU058104

chr3:
188225205-188225205

C

A

intronic

De novo

-

-

Yuen2017 G

LPP

11954.p1

chr3:
188200887-188200887

T

A

intronic

De novo

-

-

Werling2018 G

LPP

2-1521-003

chr3:
188026664-188026664

G

A

intronic

De novo

-

-

Yuen2017 G

LPP

AU3885304

chr3:
188143828-188143828

C

T

intronic

De novo

-

-

Yuen2017 G

LPP

2-1591-003

chr3:
188088321-188088321

C

T

intronic

De novo

-

-

Yuen2017 G

LPP

AU3787302

chr3:
188043060-188043060

C

T

intronic

De novo

-

-

Yuen2017 G

LPP

1-0329-003

chr3:
188310341-188310341

T

TG

intronic

De novo

-

-

Yuen2017 G

LPP

2-1264-003

chr3:
188379255-188379255

C

T

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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