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Results for "LRRFIP1"

Variant Events: 15

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     14544.p1chr2:
238617225-238617225
GAexonicDe novosynonymous SNVNM_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-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
LRRFIP1     2-1376-003chr2:
238633701-238633701
GAintronicDe novo--Yuen2016 G
Yuen2017 G
LRRFIP1     1-0413-003chr2:
238682520-238682520
CTintronicDe novo--Yuen2016 G
LRRFIP1     14587.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_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
LRRFIP1     1-0627-007chr2:
238644610-238644610
CTintronicDe novo--Yuen2017 G
LRRFIP1     2-1359-004chr2:
238656527-238656527
TCintronicDe novo--Yuen2017 G
LRRFIP1     1-0028-003chr2:
238662833-238662833
AGintronicDe novo--Yuen2017 G
LRRFIP1     08C75098chr2:
238672144-238672144
GAexonicDe novosynonymous SNVNM_001137553
NM_004735
NM_001137552
c.G1620A
c.G1716A
c.G1788A
p.T540T
p.T572T
p.T596T
-2.542E-5Satterstrom2020 E
LRRFIP1     7-0012-003chr2:
238623915-238623915
TCintronicDe novo--Yuen2017 G
LRRFIP1     Lim2017:36831chr2:
238617225-238617225
GAexonicDe novosynonymous SNVNM_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-5Lim2017 E
LRRFIP1     DEASD_0044_001chr2:
238671886-238671886
CTexonicDe novosynonymous SNVNM_001137553
NM_004735
NM_001137552
c.C1362T
c.C1458T
c.C1530T
p.D454D
p.D486D
p.D510D
-3.296E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LRRFIP1     NDAR_INVGE088ZLW_wes1chr2:
238671960-238671960
CTexonicDe novononsynonymous SNVNM_001137553
NM_004735
NM_001137552
c.C1436T
c.C1532T
c.C1604T
p.P479L
p.P511L
p.P535L
10.64-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
LRRFIP1     2-1275-003chr2:
238679161-238679161
GCintronicDe novo--Yuen2017 G
LRRFIP1     1-0488-003chr2:
238579291-238579291
CTintronicDe novo--Yuen2017 G
LRRFIP1     111308chr2:
238662099-238662099
CTexonicnonsynonymous SNVNM_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
20.82.492E-5Woodbury-Smith2022 E
Source Variant Information

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Source:

Paper alias:

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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 notesView
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