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Results for "TLE2"

Variant Events: 17

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     68727chr19:
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-Trost2022 G
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     MSSNG00171-003chr19:
3012497-3012497		GAintronicDe novo--Trost2022 G
TLE2     AU4359301chr19:
3048588-3048588		AGupstreamDe novo--Yuen2017 G
TLE2     REACH000345chr19:
3009629-3009629		TGexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761		c.A718C
c.A1087C
c.A1084C
c.A1126C		p.N240H
p.N363H
p.N362H
p.N376H		17.8-Trost2022 G
Zhou2022 GE
TLE2     1-0142-005chr19:
3001636-3001640		ACTGGAintronicDe novo--Trost2022 G
Yuen2017 G
TLE2     13631.p1chr19:
2997708-2997708		GAUTR3--Zhou2022 GE
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-5Trost2022 G
Yuen2017 G
Zhou2022 GE
TLE2     SP0087337chr19:
3025132-3025132		CAintronicDe novo--Trost2022 G
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-Fu2022 E
Lim2017 E
Trost2022 G
TLE2     2-1429-003chr19:
3032765-3032765		CAintronicDe novo--Yuen2017 G
TLE2     SP0016966chr19:
3013758-3013758		CTexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761		c.G416A
c.G785A
c.G782A
c.G824A		p.C139Y
p.C262Y
p.C261Y
p.C275Y		10.38-Fu2022 E
Trost2022 G
Zhou2022 GE
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
Zhou2022 GE
TLE2     SP0083322chr19:
3005558-3005558		GAexonicDe novosynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761		c.C1407T
c.C1776T
c.C1773T
c.C1815T		p.G469G
p.G592G
p.G591G
p.G605G		--Fu2022 E
Trost2022 G
Zhou2022 GE
TLE2     2-1361-003chr19:
3012438-3012438		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TLE2     SP0136462chr19:
3015712-3015712		GAexonicDe novononsynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761		c.C251T
c.C620T
c.C617T
c.C659T		p.P84L
p.P207L
p.P206L
p.P220L		4.3212.192E-5Fu2022 E
Trost2022 G
Zhou2022 GE
TLE2     SP0060538chr19:
3019721-3019721		CGexonicDe novosynonymous SNVNM_001144762
NM_001300846
NM_003260
NM_001144761		c.G180C
c.G345C
c.G345C
c.G384C		p.V60V
p.V115V
p.V115V
p.V128V		--Fu2022 E
Trost2022 G
Zhou2022 GE
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
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