Variant Results

or

Results for "LRFN5"

Variant Events: 115

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

LRFN5

1-0559-005

chr14:
43262125-43262125

A

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0885-003

chr14:
42140163-42140166

CAAT

C

intronic

De novo

-

Yuen2017 G

LRFN5

AU045010

chr14:
42666605-42666605

G

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0186-004

chr14:
44008128-44008128

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

A4

chr14:
43332599-43332599

G

A

intergenic

De novo

-

Wu2018 G

LRFN5

2-1105-003

chr14:
44062902-44062902

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0186-004

chr14:
44390061-44390061

G

C

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0225-003

chr14:
42610746-42610746

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1210-003

chr14:
42746168-42746168

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1352-003

chr14:
44288502-44288502

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN5

UK10K_SKUSE5080221

chr14:
42356586-42356586

G

A

exonic

De novo

nonsynonymous SNV

NM_152447

c.G758A

p.R253H

20.5

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

LRFN5

1-0871-003

chr14:
44270836-44270836

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

2-0319-003

chr14:
44117488-44117488

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0387-003

chr14:
44383612-44383612

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN5

AU1933302

chr14:
42802675-42802675

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0541-003

chr14:
42528605-42528605

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0300-004

chr14:
43143300-43143300

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

7-0123-003

chr14:
42881426-42881426

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3840302

chr14:
42489133-42489133

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1086-003

chr14:
42740184-42740184

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0352-005

chr14:
43228505-43228505

A

C

intergenic

De novo

-

Yuen2017 G

LRFN5

2-0135-003

chr14:
43914977-43914981

TTTTA

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0019-004

chr14:
44128312-44128312

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU005214

chr14:
42271503-42271503

T

C

intronic

De novo

-

Yuen2017 G

LRFN5

2-1715-004

chr14:
43579861-43579861

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3763305

chr14:
44086469-44086469

G

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4452302

chr14:
42798939-42798939

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1366-004

chr14:
43162416-43162416

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0150-004

chr14:
42270712-42270712

C

T

intronic

De novo

-

Yuen2017 G

LRFN5

AU3605303

chr14:
42811331-42811331

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3912301

chr14:
43812269-43812269

T

G

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0834-003

chr14:
43918454-43918454

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0965-003

chr14:
43540756-43540763

GAAAAAAA

GAAAAAA

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1509-003

chr14:
42078625-42078625

A

G

intronic

De novo

-

Yuen2017 G

LRFN5

1-0551-004

chr14:
43921441-43921445

CTGAG

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU024104

chr14:
43932513-43932513

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0563-004

chr14:
43445441-43445441

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0559-003

chr14:
42079870-42079870

A

AC

intronic

De novo

-

Yuen2017 G

LRFN5

1-0325-003

chr14:
43460997-43460997

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0352-003

chr14:
43228505-43228505

A

C

intergenic

De novo

-

Yuen2016 G

LRFN5

AU1909304

chr14:
42243183-42243183

C

G

intronic

De novo

-

Yuen2017 G

LRFN5

1-0200-004

chr14:
42460624-42460624

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU2165301

chr14:
43088683-43088683

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0683-003

chr14:
43973127-43973127

G

T

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1105-003

chr14:
43713154-43713154

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN5

1-0004-003

chr14:
43443655-43443658

CGTT

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3918301

chr14:
43071376-43071376

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0518-003

chr14:
42839999-42839999

T

G

intergenic

De novo

-

Yuen2016 G

LRFN5

1-0171-005

chr14:
43421799-43421803

TAGAC

T

intergenic

De novo

-

Yuen2017 G

LRFN5

2-0143-004

chr14:
43745553-43745553

A

T

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3846302

chr14:
43930030-43930030

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3955303

chr14:
44358005-44358005

G

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0488-003

chr14:
44052691-44052691

T

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0488-003

chr14:
42613898-42613898

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

3-0307-000

chr14:
42165471-42165471

T

C

intronic

De novo

-

Yuen2017 G

LRFN5

AU3761301

chr14:
42954708-42954708

A

C

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1562-004

chr14:
43167735-43167735

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1114-003

chr14:
42088542-42088542

G

A

intronic

De novo

-

Yuen2017 G

LRFN5

2-1722-003

chr14:
43523258-43523258

C

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3605304

chr14:
42811331-42811331

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3175303

chr14:
43455425-43455425

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

5-0077-004

chr14:
44024985-44024985

A

ACATG

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4462302

chr14:
44195996-44195996

G

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4235303

chr14:
43706633-43706633

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

2-0057-004

chr14:
43330734-43330734

C

CTAATT

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0028-003

chr14:
44193735-44193735

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU050704

chr14:
42144390-42144390

T

G

intronic

De novo

-

Yuen2017 G

LRFN5

AU006804

chr14:
43910637-43910637

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0296-004

chr14:
43448100-43448100

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3849303

chr14:
43216794-43216794

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3849303

chr14:
43295712-43295712

G

T

intergenic

De novo

-

Yuen2017 G

LRFN5

AU051504

chr14:
43854283-43854283

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4092302

chr14:
42148831-42148831

G

A

intronic

De novo

-

Yuen2017 G

LRFN5

AU2485305

chr14:
43730253-43730253

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3725302

chr14:
43906916-43906916

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3725302

chr14:
43909959-43909959

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

3-0437-000

chr14:
42653916-42653916

A

C

intergenic

De novo

-

Yuen2016 G

LRFN5

1-0651-003

chr14:
42986208-42986208

T

A

intergenic

De novo

-

Yuen2017 G

LRFN5

A12

chr14:
43470903-43470903

G

A

intergenic

De novo

-

Wu2018 G

LRFN5

2-1487-003

chr14:
42597061-42597061

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3728301

chr14:
42669430-42669430

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4286302

chr14:
42916937-42916937

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU2950301

chr14:
43842792-43842792

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU078503

chr14:
42306574-42306574

G

T

intronic

De novo

-

Yuen2017 G

LRFN5

AU4429301

chr14:
44229496-44229496

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU063004

chr14:
42754711-42754711

G

T

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0320-004

chr14:
43623152-43623152

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1709-003

chr14:
42631756-42631756

T

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0382-004

chr14:
43947098-43947098

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0459-003

chr14:
43453859-43453859

T

TAAAG

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0278-003

chr14:
43633547-43633547

G

A

intergenic

De novo

-

Yuen2016 G

LRFN5

AU4310301

chr14:
42077102-42077102

C

T

UTR5

De novo

-

Yuen2017 G

LRFN5

AU3862305

chr14:
43722084-43722084

C

A

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0522-003

chr14:
42928518-42928518

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN5

1-0010-005

chr14:
44236845-44236845

T

C

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1408-004

chr14:
42365049-42365050

GA

G

intronic

De novo

-

Yuen2017 G

LRFN5

11252.p1

chr14:
43097321-43097321

G

A

intergenic

De novo

-

Turner2016 G

LRFN5

11341.p1

chr14:
42466213-42466213

A

G

intergenic

De novo

-

Turner2016 G

LRFN5

2-1089-003

chr14:
42242144-42242144

C

T

intronic

De novo

-

Yuen2017 G

LRFN5

13951.p1

chr14:
42850519-42850519

A

C

intergenic

De novo

-

Turner2016 G

LRFN5

AU3692302

chr14:
42418915-42418915

A

G

intergenic

De novo

-

Yuen2017 G

LRFN5

7-0133-003

chr14:
43148510-43148510

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1338-003

chr14:
44198772-44198772

T

G

intergenic

De novo

-

Yuen2017 G

LRFN5

2-1132-003

chr14:
43042248-43042248

T

G

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3692302

chr14:
43673043-43673054

CTATATATATAT

CTATATATATATAT

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0490-003

chr14:
43123882-43123882

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU1308303

chr14:
42980370-42980370

G

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU3903301

chr14:
43148881-43148881

C

G

intergenic

De novo

-

Yuen2017 G

LRFN5

A8

chr14:
43030488-43030489

AG

A

intergenic

De novo

-

Wu2018 G

LRFN5

2-0109-003

chr14:
44185438-44185438

T

A

intergenic

De novo

-

Yuen2017 G

LRFN5

AU017704

chr14:
44293218-44293226

ATAGTTAGT

ATAGT

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0757-003

chr14:
43470714-43470714

C

T

intergenic

De novo

-

Yuen2017 G

LRFN5

AU4191302

chr14:
43709249-43709253

TGAAG

TG

intergenic

De novo

-

Yuen2017 G

LRFN5

1-0669-003

chr14:
42076361-42076361

G

T

upstream

De novo

-

Yuen2017 G

LRFN5

AU3765302

chr14:
44386146-44386146

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
	More