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Results for "TET2"

Variant Events: 12

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
TET2     12028.p1chr4:
106156521-106156521		GAexonicDe novosynonymous SNVNM_001127208
NM_017628		c.G1422A
c.G1422A		p.P474P
p.P474P		-4.948E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
TET2     11348.p1chr4:
106196675-106196675		CTexonicDe novononsynonymous SNVNM_001127208c.C5008Tp.L1670F15.69-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TET2     2-1153-003chr4:
106157491-106157491		GAexonicDe novononsynonymous SNVNM_001127208
NM_017628		c.G2392A
c.G2392A		p.E798K
p.E798K		10.648.362E-6Yuen2016 G
Yuen2017 G
TET2     12028_p1chr4:
106156521-106156521		GAexonicDe novosynonymous SNVNM_001127208
NM_017628		c.G1422A
c.G1422A		p.P474P
p.P474P		-4.948E-5Fu2022 E
TET2     12313.p1chr4:
106190897-106190897		GAexonicMosaicnonsynonymous SNVNM_001127208c.G4175Ap.S1392N33.0-Dou2017 E
TET2     Lim2017:35849chr4:
106196675-106196675		CTexonicDe novononsynonymous SNVNM_001127208c.C5008Tp.L1670F15.69-Lim2017 E
TET2     7-0023-003chr4:
106164917-106164917		GCexonicDe novononsynonymous SNVNM_001127208c.G3785Cp.R1262P23.8-Yuen2017 G
TET2     Cukier2014:7713chr4:
106156163-106156163		GAexonicUnknownnonsynonymous SNVNM_001127208
NM_017628		c.G1064A
c.G1064A		p.G355D
p.G355D		16.810.0268Cukier2014 E
TET2     Cukier2014: 7531chr4:
106156163-106156163		GAexonicUnknownnonsynonymous SNVNM_001127208
NM_017628		c.G1064A
c.G1064A		p.G355D
p.G355D		16.810.0268Cukier2014 E
TET2     35849chr4:
106196675-106196675		CTexonicDe novononsynonymous SNVNM_001127208c.C5008Tp.L1670F15.69-Fu2022 E
TET2     12237.p1chr4:
106155888-106155888		GTexonicMosaic, De novononsynonymous SNVNM_001127208
NM_017628		c.G789T
c.G789T		p.E263D
p.E263D		17.9-Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
TET2     11382.p1chr4:
106180819-106180819		GTexonicMosaicnonsynonymous SNVNM_001127208c.G3847Tp.A1283S34.0-Krupp2017 E
Source Variant Information

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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.
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