Variant Results

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Results for "LRRK2"

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

LRRK2

A09018-3

chr12:
40702952-40702952

C

T

exonic

Unknown

stopgain

NM_198578

c.C4234T

p.R1412X

44.0

-

Li2017 T

LRRK2

AU3399302

chr12:
40766507-40766507

G

T

intergenic

De novo

-

-

Yuen2017 G

LRRK2

A7

chr12:
40702952-40702952

C

T

exonic

De novo

stopgain

NM_198578

c.C4234T

p.R1412X

44.0

-

Wu2018 G

LRRK2

1-0563-003

chr12:
40721453-40721453

G

A

intronic

De novo

-

-

Yuen2017 G

LRRK2

Li2017:23636

chr12:
40702346-40702346

G

A

exonic

Unknown

nonsynonymous SNV

NM_198578

c.G4037A

p.G1346D

28.1

-

Li2017 T

LRRK2

2-1213-003

chr12:
40779224-40779224

G

T

intergenic

De novo

-

-

Yuen2017 G

LRRK2

AU070703

chr12:
40715947-40715947

A

G

exonic

De novo

nonsynonymous SNV

NM_198578

c.A5281G

p.S1761G

21.5

-

Yuen2017 G

LRRK2

iHART2748

chr12:
40753248-40753248

T

C

splicing

Paternal

splicing

17.07

Ruzzo2019 G

LRRK2

AU2156303

chr12:
40676145-40676145

G

A

intronic

De novo

-

-

Yuen2017 G

LRRK2

Li2017:19687

chr12:
40715839-40715839

C

T

exonic

Unknown

stopgain

NM_198578

c.C5173T

p.R1725X

45.0

Li2017 T

LRRK2

SP0019599

chr12:
40707817-40707817

A

G

exonic

De novo

nonsynonymous SNV

NM_198578

c.A4580G

p.Y1527C

23.5

-

Fu2022 E

LRRK2

3-0436-000

chr12:
40766587-40766587

C

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

LRRK2

2-0102-004

chr12:
40668397-40668397

C

T

exonic

De novo

nonsynonymous SNV

NM_198578

c.C1669T

p.P557S

23.1

-

Yuen2015 G

LRRK2

Li2017:19764

chr12:
40704416-40704416

C

T

exonic

Unknown

nonsynonymous SNV

NM_198578

c.C4501T

p.R1501W

25.3

Li2017 T

LRRK2

AU038204

chr12:
40687350-40687350

G

T

exonic

De novo

nonsynonymous SNV

NM_198578

c.G2693T

p.S898I

15.31

-

Yuen2017 G

LRRK2

SP0005499

chr12:
40629502-40629502

T

G

exonic

De novo

nonsynonymous SNV

NM_198578

c.T422G

p.L141R

17.25

Fu2022 E

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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