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Results for "FLRT2"

Variant Events: 24

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
FLRT2     2-1241-003chr14:
86202407-86202407
CAintergenicDe novo--Yuen2017 G
FLRT2     2-1241-003chr14:
86202404-86202404
CTintergenicDe novo--Yuen2017 G
FLRT2     JASD_Fam0172chr14:
86089107-86089108
GTGexonicDe novoframeshift deletionNM_013231c.1250delTp.V417fs--Takata2018 E
FLRT2     2-1241-003chr14:
86202395-86202395
CTintergenicDe novo--Yuen2017 G
FLRT2     2-1292-003chr14:
86296944-86296944
CTintergenicDe novo--Yuen2017 G
FLRT2     NP185chr14:
86089107-86089108
GTGexonicDe novoframeshift deletionNM_013231c.1250delTp.V417fs--Satterstrom2020 E
FLRT2     1-0218-004chr14:
86380813-86380813
CCTTintergenicDe novo--Yuen2017 G
FLRT2     1-0161-003chr14:
86117954-86117954
CTintergenicDe novo--Yuen2017 G
FLRT2     1-0161-003chr14:
86046125-86046125
GAintronicDe novo--Yuen2017 G
FLRT2     1-0551-003chr14:
86147192-86147192
TCintergenicDe novo--Yuen2017 G
FLRT2     2-1620-003chr14:
86044367-86044367
GAintronicDe novo--Yuen2017 G
FLRT2     2-1460-003chr14:
86071852-86071852
CTintronicDe novo--Yuen2017 G
FLRT2     AU3903301chr14:
86335214-86335214
GAintergenicDe novo--Yuen2017 G
FLRT2     AU3638302chr14:
86175847-86175847
GAintergenicDe novo--Yuen2017 G
FLRT2     12175.p1chr14:
86368429-86368429
TCintergenicDe novo--Turner2016 G
FLRT2     2-1353-003chr14:
86121541-86121541
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
FLRT2     13964.p1chr14:
86085315-86085315
CTintronicDe novo--Turner2016 G
FLRT2     12175.p1chr14:
86368416-86368416
TCintergenicDe novo--Turner2016 G
FLRT2     1-0325-003chr14:
86232936-86232936
CAintergenicDe novo--Yuen2017 G
FLRT2     1-0285-003chr14:
86167828-86167828
CGintergenicDe novo--Yuen2017 G
FLRT2     2-1526-004chr14:
86228847-86228847
GGAAAintergenicDe novo--Yuen2017 G
FLRT2     5-0015-004chr14:
86318543-86318543
TCintergenicDe novo--Yuen2017 G
FLRT2     AU076808chr14:
86324514-86324514
GTintergenicDe novo--Yuen2017 G
FLRT2     AU4089302chr14:
86073759-86073759
CAintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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