Variant Results

or

or

Results for "LEKR1"

Variant Events: 15

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

LEKR1

3-0169-000

chr3:
156572362-156572362

T

C

intronic

De novo

-

-

Yuen2016 G

LEKR1

2-1422-003

chr3:
156689794-156689794

G

A

intronic

De novo

-

-

Yuen2017 G

LEKR1

AU3763305

chr3:
156783505-156783505

G

T

intergenic

De novo

-

-

Yuen2017 G

LEKR1

2-1174-005B

chr3:
156646917-156646917

A

G

intronic

De novo

-

-

Yuen2017 G

LEKR1

AU1952305

chr3:
156597000-156597000

C

T

intronic

De novo

-

-

Yuen2017 G

LEKR1

3-0018-000

chr3:
156634257-156634257

T

G

intronic

De novo

-

-

Yuen2017 G

LEKR1

13050.p1

chr3:
156570593-156570593

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001004316
NM_001193283

c.G85A
c.G85A

p.V29I
p.V29I

18.22

-

Krupp2017 E

LEKR1

AU060403

chr3:
156605192-156605192

C

G

intronic

De novo

-

-

Yuen2017 G

LEKR1

1-0381-003

chr3:
156622364-156622365

TC

T

intronic

De novo

-

-

Yuen2017 G

LEKR1

iHART2888

chr3:
156570632-156570633

GA

G

exonic

Maternal

frameshift deletion

NM_001004316
NM_001193283

c.125delA
c.125delA

p.E42fs
p.E42fs

-

-

Ruzzo2019 G

LEKR1

2-1370-003

chr3:
156617372-156617374

CAT

C

intronic

De novo

-

-

Yuen2017 G

LEKR1

AU3645301

chr3:
156697366-156697366

C

T

intronic

De novo

-

-

Yuen2017 G

LEKR1

2-1346-003

chr3:
156733716-156733716

A

T

intronic

De novo

-

-

Yuen2017 G

LEKR1

AU3885304

chr3:
156713440-156713440

G

A

intronic

De novo

-

-

Yuen2017 G

LEKR1

7-0251-003

chr3:
156714059-156714059

T

A

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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