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Results for "TLE2"

Variant Events: 8

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
TLE2     SSC00469chr19:
3005882-3005882
TCexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761
c.A1219G
c.A1588G
c.A1585G
c.A1627G
p.I407V
p.I530V
p.I529V
p.I543V
14.92-Lim2017 E
TLE2     12619.p1chr19:
3011067-3011067
TGexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761
c.A599C
c.A968C
c.A965C
c.A1007C
p.H200P
p.H323P
p.H322P
p.H336P
12.65-Satterstrom2020 E
TLE2     2-1429-003chr19:
3032765-3032765
CAintronicDe novo--Yuen2017 G
TLE2     11420.p1chr19:
3005882-3005882
TCexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761
c.A1219G
c.A1588G
c.A1585G
c.A1627G
p.I407V
p.I530V
p.I529V
p.I543V
14.92-Ji2016 E
Krumm2015 E
Satterstrom2020 E
TLE2     AU4359301chr19:
3048588-3048588
AGupstreamDe novo--Yuen2017 G
TLE2     1-0142-005chr19:
3001636-3001640
ACTGGAintronicDe novo--Yuen2017 G
TLE2     AU2410302chr19:
3027854-3027854
GAexonicDe novosynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761
c.C39T
c.C204T
c.C204T
c.C243T
p.Y13Y
p.Y68Y
p.Y68Y
p.Y81Y
-1.065E-5Yuen2017 G
TLE2     2-1361-003chr19:
3012438-3012438
CTintronicDe novo--Yuen2016 G
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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