Variant Results

or

Results for "LRRC4C"

Variant Events: 96

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

LRRC4C

AU2951302

chr11:
41386118-41386118

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1356-003

chr11:
41645656-41645656

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

2-1169-004

chr11:
40503725-40503725

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1163-003

chr11:
40996645-40996645

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

2-1295-003

chr11:
41167964-41167964

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

5-0077-003

chr11:
40778090-40778090

A

AT

intronic

De novo

-

Yuen2017 G

LRRC4C

AU031404

chr11:
40912814-40912832

AAACAACAACAACAACAAC

AAACAACAACAACAAC

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0321-004

chr11:
41554199-41554199

G

A

intergenic

De novo

-

Yuen2017 G

LRRC4C

2-1264-003

chr11:
40359768-40359768

T

G

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3052302

chr11:
41471546-41471546

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

7-0174-003

chr11:
41476215-41476215

A

T

intronic

De novo

-

Yuen2017 G

LRRC4C

5-0040-003

chr11:
41554199-41554199

G

A

intergenic

De novo

-

Yuen2017 G

LRRC4C

2-1283-003

chr11:
40973675-40973675

G

C

intronic

De novo

-

Yuen2017 G

LRRC4C

5-0065-003

chr11:
41081695-41081695

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1318-004

chr11:
40629368-40629368

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3721302

chr11:
40158710-40158713

GCAC

GC

intronic

De novo

-

Yuen2017 G

LRRC4C

AU4462302

chr11:
40689419-40689419

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

Ishay2021:18

chr11:
40137835-40137835

T

G

exonic

Inherited

nonsynonymous SNV

NM_020929
NM_001258419

c.A8C
c.A8C

p.N3T
p.N3T

24.5

0.0026

Ishay2021 E

LRRC4C

2-1138-003

chr11:
40370542-40370542

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

AU1933302

chr11:
41703624-41703624

G

A

intergenic

De novo

-

Yuen2017 G

LRRC4C

1-0344-003

chr11:
40612849-40612849

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0161-003

chr11:
41667506-41667506

C

A

intergenic

De novo

-

Yuen2017 G

LRRC4C

AU073006

chr11:
40884916-40884916

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0522-003

chr11:
41205805-41205805

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1148-004

chr11:
41239707-41239707

T

G

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0126-003

chr11:
40210924-40210924

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

AU028305

chr11:
40200695-40200695

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3124304

chr11:
40831253-40831253

T

A

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3695303

chr11:
40974829-40974829

C

A

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0591-003

chr11:
40971118-40971119

TC

T

intronic

De novo

-

Yuen2017 G

LRRC4C

11089.p1

chr11:
40719486-40719486

C

T

intronic

De novo

-

Turner2016 G

LRRC4C

1-0019-004

chr11:
40401748-40401748

T

G

intronic

De novo

-

Yuen2017 G

LRRC4C

12568.p1

chr11:
40818226-40818226

T

G

intronic

De novo

-

Turner2016 G

LRRC4C

2-1277-004

chr11:
40882190-40882190

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

7-0102-003

chr11:
40268829-40268829

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU024607

chr11:
41179364-41179364

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0244-003

chr11:
41698336-41698336

A

G

intergenic

De novo

-

Yuen2016 G

LRRC4C

1-0304-003

chr11:
40313938-40313938

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

1-0448-003

chr11:
40171244-40171244

T

G

intronic

De novo

-

Yuen2017 G

LRRC4C

2-0323-004

chr11:
40537208-40537208

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3728301

chr11:
40493220-40493220

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0572-003

chr11:
40187971-40187971

G

T

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1561-003

chr11:
40955415-40955415

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3721301

chr11:
40524020-40524020

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0382-004

chr11:
40705370-40705370

A

G

intronic

De novo

-

Yuen2017 G

LRRC4C

5-0054-003

chr11:
40897046-40897046

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-0210-005

chr11:
41566492-41566492

G

C

intergenic

De novo

-

Yuen2017 G

LRRC4C

AU3636301

chr11:
41557055-41557055

C

T

intergenic

De novo

-

Yuen2017 G

LRRC4C

AU3862305

chr11:
40549638-40549638

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0231-004

chr11:
41222163-41222163

A

G

intronic

De novo

-

Yuen2017 G

LRRC4C

AU4429301

chr11:
40599508-40599508

C

G

intronic

De novo

-

Yuen2017 G

LRRC4C

G01-GEA-87-HI

chr11:
40137376-40137376

C

T

exonic

De novo

nonsynonymous SNV

NM_020929
NM_001258419

c.G467A
c.G467A

p.R156Q
p.R156Q

20.3

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

LRRC4C

2-0285-003

chr11:
40818904-40818904

T

A

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0372-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

5-0125-003

chr11:
40216910-40216910

C

A

intronic

De novo

-

Yuen2017 G

LRRC4C

AU1223301

chr11:
40982362-40982362

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3918302

chr11:
41642468-41642468

T

C

intergenic

De novo

-

Yuen2017 G

LRRC4C

AU2123302

chr11:
41205959-41205959

A

G

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1129-003

chr11:
40811981-40811981

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

1-0595-005

chr11:
41265682-41265682

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

80001100820

chr11:
40137355-40137355

A

T

exonic

De novo

nonsynonymous SNV

NM_020929
NM_001258419

c.T488A
c.T488A

p.I163N
p.I163N

16.39

-

Fu2022 E
Satterstrom2020 E

LRRC4C

2-1431-003

chr11:
40909319-40909319

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

2-1116-003

chr11:
41006554-41006554

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

AU3808305

chr11:
40467274-40467274

A

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0206-005

chr11:
40942114-40942114

C

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-0225-004

chr11:
40586655-40586655

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU003405

chr11:
41081348-41081348

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1741-003

chr11:
41578291-41578291

T

C

intergenic

De novo

-

Yuen2017 G

LRRC4C

7-0082-003

chr11:
41233703-41233703

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

AU2787302

chr11:
40517362-40517363

TG

T

intronic

De novo

-

Yuen2017 G

LRRC4C

A15

chr11:
41294801-41294801

G

A

intronic

De novo

-

Wu2018 G

LRRC4C

1-0041-003

chr11:
41660226-41660226

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

AU1668302

chr11:
40503093-40503093

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3399302

chr11:
41178158-41178158

A

G

intronic

De novo

-

Yuen2017 G

LRRC4C

AU4315302

chr11:
41402563-41402563

A

G

intronic

De novo

-

Yuen2017 G

LRRC4C

5-0110-003

chr11:
41113188-41113190

AGG

AG

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0570-003

chr11:
41070961-41070961

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0464-003

chr11:
40468002-40468002

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRRC4C

1-0161-004

chr11:
41667506-41667506

C

A

intergenic

De novo

-

Yuen2017 G

LRRC4C

AU4145303

chr11:
41431369-41431375

CAAAAAA

CAAAAA

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3787303

chr11:
41250171-41250171

G

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1592-003

chr11:
41313953-41313953

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

ASC_CA_74_A

chr11:
40136051-40136051

A

G

exonic

De novo

nonsynonymous SNV

NM_020929
NM_001258419

c.T1792C
c.T1792C

p.Y598H
p.Y598H

9.786

-

Fu2022 E
Satterstrom2020 E

LRRC4C

AU3889305

chr11:
40670859-40670859

T

A

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0554-003

chr11:
41119174-41119174

C

A

intronic

De novo

-

Yuen2017 G

LRRC4C

2-0129-005

chr11:
40230093-40230093

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0841-003

chr11:
41369999-41369999

C

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU072505

chr11:
40745785-40745785

A

C

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1297-004

chr11:
40439059-40439059

T

A

intronic

De novo

-

Yuen2017 G

LRRC4C

Mahjani2021:20

chr11:
40137355-40137355

A

T

exonic

nonsynonymous SNV

NM_020929
NM_001258419

c.T488A
c.T488A

p.I163N
p.I163N

16.39

-

Mahjani2021 E

LRRC4C

1-0486-003

chr11:
40416333-40416333

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

1-0606-003

chr11:
41068682-41068682

A

T

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3051303

chr11:
40140280-40140280

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

2-1215-003

chr11:
40950135-40950135

T

C

intronic

De novo

-

Yuen2017 G

LRRC4C

AU3729301

chr11:
40851613-40851619

GAAAAAA

GAAAAAAA

intronic

De novo

-

Yuen2017 G

LRRC4C

AU2951303

chr11:
41386118-41386118

G

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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