Variant Results

or

Results for "LRRFIP1"

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

LRRFIP1

2-1376-003

chr2:
238633701-238633701

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LRRFIP1

1-0413-003

chr2:
238682520-238682520

C

T

intronic

De novo

-

Yuen2016 G

LRRFIP1

1-0627-007

chr2:
238644610-238644610

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

2-1359-004

chr2:
238656527-238656527

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

08C75098

chr2:
238672144-238672144

G

A

exonic

De novo

synonymous SNV

NM_001137553
NM_004735
NM_001137552

c.G1620A
c.G1716A
c.G1788A

p.T540T
p.T572T
p.T596T

-

2.542E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRRFIP1

7-0012-003

chr2:
238623915-238623915

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

14544.p1

chr2:
238617225-238617225

G

A

exonic

De novo

synonymous SNV

NM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735

c.G135A
c.G105A
c.G105A
c.G105A
c.G105A

p.A45A
p.A35A
p.A35A
p.A35A
p.A35A

-

2.894E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LRRFIP1

14587.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735

c.167dupA
c.137dupA
c.137dupA
c.137dupA
c.137dupA

p.E56fs
p.E46fs
p.E46fs
p.E46fs
p.E46fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LRRFIP1

36831

chr2:
238617225-238617225

G

A

exonic

De novo

synonymous SNV

NM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735

c.G135A
c.G105A
c.G105A
c.G105A
c.G105A

p.A45A
p.A35A
p.A35A
p.A35A
p.A35A

-

2.894E-5

Fu2022 E
Trost2022 G

LRRFIP1

36942

chr2:
238617256-238617256

G

GA

exonic

De novo

frameshift insertion

NM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735

c.167dupA
c.137dupA
c.137dupA
c.137dupA
c.137dupA

p.E56fs
p.E46fs
p.E46fs
p.E46fs
p.E46fs

-

Fu2022 E
Trost2022 G

LRRFIP1

1-0028-003

chr2:
238662833-238662833

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

MSSNG00362-003

chr2:
238553450-238553450

G

C

intronic

De novo

-

Trost2022 G

LRRFIP1

Lim2017:36831

chr2:
238617225-238617225

G

A

exonic

De novo

synonymous SNV

NM_001137550
NM_001137551
NM_001137552
NM_001137553
NM_004735

c.G135A
c.G105A
c.G105A
c.G105A
c.G105A

p.A45A
p.A35A
p.A35A
p.A35A
p.A35A

-

2.894E-5

Lim2017 E

LRRFIP1

7-0202-003

chr2:
238580965-238580965

C

T

intronic

De novo

-

Trost2022 G

LRRFIP1

1-1179-003

chr2:
238546495-238546495

A

G

intronic

De novo

-

Trost2022 G

LRRFIP1

SP0012137

chr2:
238667368-238667368

T

A

intronic

De novo

-

Fu2022 E
Zhou2022 GE

LRRFIP1

DEASD_0044_001

chr2:
238671886-238671886

C

T

exonic

De novo

synonymous SNV

NM_001137553
NM_004735
NM_001137552

c.C1362T
c.C1458T
c.C1530T

p.D454D
p.D486D
p.D510D

-

3.296E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRRFIP1

SP0030523

chr2:
238617185-238617185

A

G

splicing

De novo

splicing

19.95

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LRRFIP1

NDAR_INVGE088ZLW_wes1

chr2:
238671960-238671960

C

T

exonic

De novo

nonsynonymous SNV

NM_001137553
NM_004735
NM_001137552

c.C1436T
c.C1532T
c.C1604T

p.P479L
p.P511L
p.P535L

10.64

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LRRFIP1

2-1275-003

chr2:
238679161-238679161

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

3-0467-000

chr2:
238617766-238617766

A

G

intronic

De novo

-

Trost2022 G

LRRFIP1

1-0488-003

chr2:
238579291-238579291

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LRRFIP1

MSSNG00094-003

chr2:
238610764-238610772

CCTGGGGGT

C

intronic

De novo

-

Trost2022 G

LRRFIP1

SP0000854

chr2:
238642306-238642306

G

A

intronic

De novo

-

Fu2022 E

LRRFIP1

SP0111195

chr2:
238617147-238617147

C

T

intronic

De novo

-

9.127E-5

Trost2022 G

LRRFIP1

111308

chr2:
238662099-238662099

C

T

exonic

nonsynonymous SNV

NM_001137551
NM_001137553
NM_004735
NM_001137552
NM_001137550

c.C463T
c.C463T
c.C559T
c.C631T
c.C1015T

p.R155W
p.R155W
p.R187W
p.R211W
p.R339W

20.8

2.492E-5

Woodbury-Smith2022 E

LRRFIP1

SJD_34.3

chr2:
238601126-238601126

C

T

exonic

De novo

nonsynonymous SNV

NM_001137551
NM_001137552
NM_001137553
NM_004735

c.C28T
c.C28T
c.C28T
c.C28T

p.R10W
p.R10W
p.R10W
p.R10W

11.17

-

Trost2022 G
Zhou2022 GE

LRRFIP1

1-0951-003

chr2:
238591697-238591697

G

A

intronic

De novo

-

Trost2022 G

LRRFIP1

SP0138252

chr2:
238600829-238600829

C

G

UTR5

De novo

-

Trost2022 G

LRRFIP1

AU2596301

chr2:
238672144-238672144

G

A

exonic

synonymous SNV

NM_001137553
NM_004735
NM_001137552

c.G1620A
c.G1716A
c.G1788A

p.T540T
p.T572T
p.T596T

-

2.542E-5

Zhou2022 GE

LRRFIP1

MSSNG00120-003

chr2:
238582071-238582071

A

G

intronic

De novo

-

Trost2022 G

LRRFIP1

SP0153060

chr2:
238672044-238672044

A

G

exonic

nonsynonymous SNV

NM_001137553
NM_004735
NM_001137552

c.A1520G
c.A1616G
c.A1688G

p.D507G
p.D539G
p.D563G

9.789

-

Zhou2022 GE

LRRFIP1

3-0454-000

chr2:
238583314-238583314

C

T

intronic

De novo

-

Trost2022 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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