Variant Results

or

Results for "LEPR"

Variant Events: 16

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

LEPR

AU3636301

chr1:
65918521-65918521

A

T

intronic

De novo

-

Yuen2017 G

LEPR

AU3779304

chr1:
65967529-65967529

G

A

intronic

De novo

-

Yuen2017 G

LEPR

AU2140306

chr1:
66093376-66093376

T

C

intronic

De novo

-

Yuen2017 G

LEPR

A21

chr1:
65949692-65949692

G

T

intronic

De novo

-

Wu2018 G

LEPR

1-0121-003

chr1:
65940029-65940029

A

G

intronic

De novo

-

Yuen2017 G

LEPR

2-1174-005B

chr1:
66239520-66239520

A

C

intergenic

De novo

-

Yuen2017 G

LEPR

14339.p1

chr1:
65909123-65909123

A

AAT

intronic

Unknown

-

Werling2018 G

LEPR

11368.p1

chr1:
65886488-65886489

TG

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

LEPR

2-0012-003

chr1:
65929486-65929486

T

C

intronic

De novo

-

Yuen2017 G

LEPR

5-0017-003

chr1:
66067614-66067614

G

A

exonic

De novo

synonymous SNV

NM_001198687
NM_001198688
NM_001198689
NM_001003679
NM_001003680
NM_002303

c.G1374A
c.G1374A
c.G1374A
c.G1374A
c.G1374A
c.G1374A

p.A458A
p.A458A
p.A458A
p.A458A
p.A458A
p.A458A

-

2.472E-5

Yuen2017 G

LEPR

A30

chr1:
65973375-65973375

G

A

intronic

De novo

-

Wu2018 G

LEPR

AU3052301

chr1:
66063182-66063182

G

A

intronic

De novo

-

Yuen2017 G

LEPR

7-0251-003

chr1:
65951294-65951310

ACTCTCTCTCTCTCTCT

ACTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

LEPR

74-0265

chr1:
66077434-66077434

G

T

intronic

De novo

-

Michaelson2012 G

LEPR

2-1561-003

chr1:
66219479-66219481

ATT

A

intergenic

De novo

-

Yuen2017 G

LEPR

2-1632-003

chr1:
66184918-66184932

ACCTCTCCTCTCCTC

ACCTCTCCTC

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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