Variant Results

or

Results for "LRFN2"

Variant Events: 33

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

LRFN2

2-0149-004

chr6:
40771069-40771069

A

G

intergenic

De novo

-

Yuen2017 G

LRFN2

AU031403

chr6:
40734330-40734330

G

A

intergenic

De novo

-

Yuen2017 G

LRFN2

AU4159301

chr6:
40797060-40797060

C

T

intergenic

De novo

-

Yuen2017 G

LRFN2

2-1632-003

chr6:
40812333-40812333

A

C

intergenic

De novo

-

Yuen2017 G

LRFN2

2-1328-003

chr6:
40425262-40425262

A

AGCACC

intronic

De novo

-

Yuen2016 G

LRFN2

AU2793301

chr6:
40734810-40734810

G

A

intergenic

De novo

-

Yuen2017 G

LRFN2

AU2035301

chr6:
40423371-40423371

G

A

intronic

De novo

-

Yuen2017 G

LRFN2

12493.p1

chr6:
40361860-40361860

C

G

intronic

De novo

-

Turner2016 G

LRFN2

2-1522-003

chr6:
40373368-40373368

G

T

intronic

De novo

-

Yuen2017 G

LRFN2

11002.p1

chr6:
40691072-40691072

G

A

intergenic

De novo

-

Turner2016 G

LRFN2

1-0169-003

chr6:
40622763-40622763

T

TGGTGA

intergenic

De novo

-

Yuen2017 G

LRFN2

1-0190-003

chr6:
40749247-40749247

C

T

intergenic

De novo

-

Yuen2017 G

LRFN2

AU3779302

chr6:
40640681-40640681

A

G

intergenic

De novo

-

Yuen2017 G

LRFN2

13393.p1

chr6:
40784556-40784556

C

T

intergenic

De novo

-

Turner2016 G

LRFN2

72-1397

chr6:
40400491-40400491

C

T

exonic

Inherited

nonsynonymous SNV

NM_020737

c.G362A

p.R121Q

18.42

2.475E-5

Patowary2019 E

LRFN2

AU011604

chr6:
40630869-40630869

T

C

intergenic

De novo

-

Yuen2017 G

LRFN2

2-1375-003

chr6:
40572139-40572139

C

A

intergenic

De novo

-

Yuen2017 G

LRFN2

1-0292-005

chr6:
40538790-40538790

G

A

intronic

De novo

-

Yuen2017 G

LRFN2

2-1178-003

chr6:
40404734-40404750

AGTGTGTGTGTGTGTGT

AGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

LRFN2

AU026412

chr6:
40705513-40705513

G

C

intergenic

De novo

-

Yuen2017 G

LRFN2

11234.p1

chr6:
40399693-40399693

C

T

exonic

De novo

nonsynonymous SNV

NM_020737

c.G1160A

p.S387N

0.993

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

LRFN2

14477.p1

chr6:
40400210-40400211

CA

C

exonic

De novo

frameshift deletion

NM_020737

c.642delT

p.P214fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

LRFN2

1-0498-003

chr6:
40542969-40542969

C

T

intronic

De novo

-

Yuen2017 G

LRFN2

2-0285-003

chr6:
40604323-40604323

A

G

intergenic

De novo

-

Yuen2017 G

LRFN2

1-0458-005

chr6:
40622721-40622721

T

TGGC

intergenic

De novo

-

Yuen2017 G

LRFN2

1-0936-003

chr6:
40613981-40613981

G

A

intergenic

De novo

-

Yuen2017 G

LRFN2

1-0923-003

chr6:
40440914-40440914

G

A

intronic

De novo

-

Yuen2017 G

LRFN2

2-1169-003

chr6:
40622937-40622937

T

TAGTAATAATGATGGTTACA

intergenic

De novo

-

Yuen2017 G

LRFN2

2-1195-003

chr6:
40703977-40703977

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN2

1-0459-003

chr6:
40719526-40719565

CCTCAGACTGGGGCTCCCTGAGGACGGGGCTGCGTCTGCT

C

intergenic

De novo

-

Yuen2017 G

LRFN2

AU2035302

chr6:
40423371-40423371

G

A

intronic

De novo

-

Yuen2017 G

LRFN2

2-1440-003

chr6:
40418318-40418318

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LRFN2

AU4306302

chr6:
40816387-40816387

A

G

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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