Variant Results

or

Results for "LCORL"

Variant Events: 131

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

LCORL

1-0533-003

chr4:
18249637-18249637

C

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU011903

chr4:
19075731-19075731

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU4283301

chr4:
18926771-18926773

TGG

TG

intergenic

De novo

-

Yuen2017 G

LCORL

AU3905302

chr4:
19761741-19761741

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

1-0358-003

chr4:
19809920-19809920

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU057405

chr4:
19613306-19613306

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1626-003

chr4:
17846581-17846585

CTTTT

CTT

UTR3

De novo

-

Yuen2017 G

LCORL

7-0100-004

chr4:
18162679-18162679

A

ATTGG

intergenic

De novo

-

Yuen2017 G

LCORL

AU2139301

chr4:
18668615-18668615

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU4473301

chr4:
19809704-19809704

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU047704

chr4:
19070161-19070161

G

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-0240-004

chr4:
18320939-18320939

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU0540301

chr4:
17982221-17982223

CAA

CAAAA

intronic

De novo

-

Yuen2017 G

LCORL

AU3695303

chr4:
19085666-19085666

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-1690-003

chr4:
19483231-19483231

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU2427302

chr4:
18660377-18660377

T

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU3858303

chr4:
19594938-19594938

A

C

intergenic

De novo

-

Yuen2017 G

LCORL

AU3721301

chr4:
19438407-19438407

A

T

intergenic

De novo

-

Yuen2017 G

LCORL

7-0002-003

chr4:
18089267-18089267

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

2-1721-003

chr4:
18604435-18604435

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU2495302

chr4:
19587538-19587539

AC

ACC

intergenic

De novo

-

Yuen2017 G

LCORL

1-0862-003

chr4:
18747611-18747611

C

CTT

intergenic

De novo

-

Yuen2017 G

LCORL

2-1333-003

chr4:
18646739-18646739

C

A

intergenic

De novo

-

Yuen2017 G

LCORL

14139.p1

chr4:
19481652-19481652

C

T

intergenic

Unknown

-

Werling2018 G

LCORL

1-0469-003

chr4:
19018296-19018296

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1370-003

chr4:
18150755-18150755

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

AU4260303

chr4:
18200262-18200262

T

G

intergenic

De novo

-

Yuen2017 G

LCORL

1-0777-003

chr4:
18980832-18980832

T

A

intergenic

De novo

-

Yuen2017 G

LCORL

NDAR_INVLR562GF7_wes1

chr4:
17887689-17887689

A

C

splicing

De novo

splicing

19.73

6.688E-5

Lim2017 E

LCORL

2-1562-004

chr4:
18505870-18505870

C

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1350-004

chr4:
20040960-20040960

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU079104

chr4:
19328008-19328008

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

AU4032306

chr4:
18238196-18238196

G

T

intergenic

De novo

-

Yuen2017 G

LCORL

7-0032-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

LCORL

2-1242-003

chr4:
19926811-19926811

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

AU075210

chr4:
19916792-19916792

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU046703

chr4:
18525148-18525148

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

1-0303-003

chr4:
18891453-18891453

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-0300-004

chr4:
18672067-18672067

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU3645301

chr4:
19024492-19024494

ATT

AT

intergenic

De novo

-

Yuen2017 G

LCORL

AU2109301

chr4:
19195475-19195475

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

1-0413-003

chr4:
18562143-18562143

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

2-1357-003

chr4:
18112979-18112979

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU071703

chr4:
20022186-20022186

T

G

intergenic

De novo

-

Yuen2017 G

LCORL

1-0651-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

LCORL

3-0185-000

chr4:
19844023-19844023

A

C

intergenic

De novo

-

Yuen2017 G

LCORL

AU4467302

chr4:
19710561-19710561

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

1-0007-003

chr4:
18748664-18748664

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1341-003

chr4:
19078317-19078317

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

5-0128-003

chr4:
18986091-18986091

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

1-0755-003

chr4:
19924919-19924919

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU006804

chr4:
18537214-18537214

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

7-0168-003

chr4:
17872018-17872018

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LCORL

1-0445-003

chr4:
19832744-19832744

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

1-0591-003

chr4:
19370931-19370931

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

7-0258-004

chr4:
17999684-17999684

G

A

intronic

De novo

-

Trost2022 G

LCORL

AU2793301

chr4:
19336756-19336756

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

MT_18.3

chr4:
18018211-18018211

A

G

intronic

De novo

-

Trost2022 G

LCORL

3-0471-000

chr4:
17991850-17991850

T

C

intronic

De novo

-

Trost2022 G

LCORL

1-0668-003

chr4:
18285885-18285886

AC

ACC

intergenic

De novo

-

Yuen2017 G

LCORL

7-0224-003

chr4:
17993047-17993047

T

C

intronic

De novo

-

Trost2022 G

LCORL

SP0152806

chr4:
17877495-17877495

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

LCORL

SP0123804

chr4:
17883473-17883473

T

C

UTR3

De novo

-

Trost2022 G

LCORL

SP0085623

chr4:
17885590-17885590

C

T

exonic

De novo

nonsynonymous SNV

NM_001166139

c.G1562A

p.R521H

18.85

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LCORL

1-1206-003

chr4:
17897164-17897164

A

T

intronic

De novo

-

Trost2022 G

LCORL

1-0483-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

AU2310301

chr4:
17854680-17854680

T

C

intronic

De novo

-

Trost2022 G

LCORL

SP0131368

chr4:
17876433-17876433

G

A

intronic

De novo

-

Trost2022 G

LCORL

2-1345-003

chr4:
18278121-18278121

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

2-1502-003

chr4:
18023521-18023521

T

G

upstream

De novo

-

Trost2022 G

LCORL

11336.p1

chr4:
18421033-18421033

C

T

intergenic

De novo

-

Werling2018 G

LCORL

3-0654-000

chr4:
18024082-18024082

A

G

upstream

De novo

-

Trost2022 G

LCORL

SP0062134

chr4:
18023330-18023330

A

G

exonic

De novo

synonymous SNV

NM_001166139
NM_153686

c.T45C
c.T45C

p.A15A
p.A15A

-

2.0E-4

Trost2022 G

LCORL

SP0062134

chr4:
18023333-18023333

A

G

exonic

De novo

synonymous SNV

NM_001166139
NM_153686

c.T42C
c.T42C

p.A14A
p.A14A

-

4.0E-4

Trost2022 G

LCORL

2-1272-003

chr4:
19273319-19273319

G

C

intergenic

De novo

-

Yuen2016 G

LCORL

AU3051302

chr4:
20072721-20072721

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU3057301

chr4:
19491926-19491929

ATTT

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU4246304

chr4:
19292017-19292017

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU4429301

chr4:
19998331-19998331

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

13251.p1

chr4:
19542959-19542959

A

T

intergenic

De novo

-

Wilfert2021 G

LCORL

AU071804

chr4:
18336027-18336027

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

1-0458-003

chr4:
19257562-19257562

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1189-003

chr4:
19103401-19103401

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LCORL

AU078503

chr4:
19303309-19303309

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU3913303

chr4:
18419998-18420000

CGG

CG

intergenic

De novo

-

Yuen2017 G

LCORL

AU045512

chr4:
19080627-19080627

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU4029302

chr4:
20083135-20083135

A

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU015903

chr4:
18778204-18778204

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU1308303

chr4:
19401019-19401019

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-1689-003

chr4:
19561748-19561748

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-0006-004

chr4:
18856686-18856686

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU2100302

chr4:
18280430-18280430

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU2100302

chr4:
19440092-19440092

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

12185.p1

chr4:
18310822-18310822

C

T

intergenic

De novo

-

Werling2018 G

LCORL

AU3052303

chr4:
20066623-20066623

G

T

intergenic

De novo

-

Yuen2017 G

LCORL

5-0061-003

chr4:
19349655-19349655

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

2-0272-004

chr4:
18785819-18785819

G

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU4468301

chr4:
19140420-19140420

G

C

intergenic

De novo

-

Yuen2017 G

LCORL

1-0912-003

chr4:
20066774-20066774

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU4013303

chr4:
19712026-19712026

A

T

intergenic

De novo

-

Yuen2017 G

LCORL

1-0868-003

chr4:
17977542-17977542

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LCORL

2-1416-004

chr4:
18590891-18590891

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

1-0032-003

chr4:
18135425-18135425

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

1-0868-003

chr4:
17977246-17977246

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LCORL

2-0223-003

chr4:
18001284-18001284

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LCORL

1-0295-003

chr4:
19855511-19855511

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU3190305

chr4:
17938970-17938970

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LCORL

A32

chr4:
18624564-18624568

TAGTA

T

intergenic

De novo

-

Wu2018 G

LCORL

2-1821-003

chr4:
17886340-17886340

C

G

exonic

De novo

nonsynonymous SNV

NM_001166139

c.G812C

p.R271T

12.78

-

Trost2022 G
Zhou2022 GE

LCORL

2-0244-004

chr4:
18861633-18861633

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

1-0568-003

chr4:
18314772-18314772

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

AU066104

chr4:
19793400-19793400

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU4250301

chr4:
18914222-18914222

G

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU3154302

chr4:
18251607-18251607

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1430-003

chr4:
18046962-18046962

C

A

intergenic

De novo

-

Yuen2017 G

LCORL

1-0321-004

chr4:
18089769-18089769

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

1-0518-003

chr4:
19764418-19764418

C

T

intergenic

De novo

-

Yuen2017 G

LCORL

AU4069302

chr4:
19080627-19080627

A

G

intergenic

De novo

-

Yuen2017 G

LCORL

2-1511-003

chr4:
19043674-19043692

GTTATTTATTTATTTATTT

GTTATTTATTTATTT

intergenic

De novo

-

Yuen2017 G

LCORL

111289

chr4:
17910885-17910885

A

G

exonic

nonsynonymous SNV

NM_001166139
NM_153686

c.T514C
c.T514C

p.Y172H
p.Y172H

22.1

-

Woodbury-Smith2022 E

LCORL

1-0339-004

chr4:
18256723-18256723

T

TTCTACTTTTA

intergenic

De novo

-

Yuen2017 G

LCORL

2-0197-004

chr4:
20026050-20026050

T

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-1176-003

chr4:
19390129-19390129

T

TACC

intergenic

De novo

-

Yuen2017 G

LCORL

AU3885305

chr4:
18266122-18266122

A

T

intergenic

De novo

-

Yuen2017 G

LCORL

2-0297-004

chr4:
20007381-20007381

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

2-1521-003

chr4:
19100827-19100827

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU3638302

chr4:
19999168-19999168

G

T

intergenic

De novo

-

Yuen2017 G

LCORL

1-0736-003

chr4:
19399320-19399320

G

C

intergenic

De novo

-

Yuen2017 G

LCORL

2-1702-003

chr4:
18143007-18143007

G

A

intergenic

De novo

-

Yuen2017 G

LCORL

AU073006

chr4:
19905296-19905296

A

C

intergenic

De novo

-

Yuen2017 G

LCORL

AU4033303

chr4:
19358250-19358250

C

T

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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