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Results for "TCF7L1"

Variant Events: 26

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
TCF7L1     1-0567-003chr2:
85540484-85540484
CCCCGintergenicDe novo--Yuen2017 G
TCF7L1     11066.p1chr2:
85529727-85529727
GTexonicMosaic, De novononsynonymous SNVNM_031283c.G646Tp.D216Y23.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
TCF7L1     AU3875301chr2:
85518564-85518564
GAintronicDe novo--Trost2022 G
Yuen2017 G
TCF7L1     2-1290-003chr2:
85521144-85521144
CTintronicDe novo--Trost2022 G
TCF7L1     2-1290-003chr2:
85521182-85521182
TCintronicDe novo--Trost2022 G
TCF7L1     1-0651-003chr2:
85492895-85492895
TCintronicDe novo--Trost2022 G
TCF7L1     2-1290-003chr2:
85521141-85521141
AGintronicDe novo--Trost2022 G
TCF7L1     MSSNG00101-004chr2:
85430238-85430238
AGintronicDe novo--Trost2022 G
TCF7L1     5-0068-003chr2:
85470179-85470180
TGTintronicDe novo--Trost2022 G
TCF7L1     MT_61.3chr2:
85374119-85374119
TCintronicDe novo--Trost2022 G
TCF7L1     MSSNG00239-003chr2:
85385624-85385624
CTintronicDe novo--Trost2022 G
TCF7L1     2-1552-003chr2:
85521374-85521375
CATGintronicDe novo--Trost2022 G
TCF7L1     TRE_1196chr2:
85361148-85361148
CAexonicDe novononsynonymous SNVNM_031283c.C259Ap.R87S20.8-Fu2022 E
TCF7L1     AU2089302chr2:
85535501-85535501
TAintronicDe novo--Trost2022 G
TCF7L1     2-1552-003chr2:
85521361-85521363
ATGGTTintronicDe novo--Trost2022 G
TCF7L1     2-1552-003chr2:
85521370-85521370
AGintronicDe novo--Trost2022 G
TCF7L1     5-0017-003chr2:
85521182-85521182
TCintronicDe novo--Trost2022 G
TCF7L1     5-0017-003chr2:
85521185-85521185
GAintronicDe novo--Trost2022 G
TCF7L1     2-1177-003chr2:
85537491-85537491
ATUTR3De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TCF7L1     1-0330-003chr2:
85535911-85535911
GGAGCCintronicDe novo--Trost2022 G
Yuen2017 G
TCF7L1     2220_17mrchr2:
85529697-85529697
TTCCCCCexonicDe novoframeshift insertionNM_031283c.616_617insCCCCCp.S206fs--Fu2022 E
TCF7L1     SSC02484chr2:
85529727-85529727
GTexonicDe novononsynonymous SNVNM_031283c.G646Tp.D216Y23.0-Fu2022 E
Lim2017 E
Trost2022 G
TCF7L1     1-0925-003chr2:
85459114-85459114
GAintronicDe novo--Trost2022 G
Yuen2017 G
TCF7L1     13660.p1chr2:
85505152-85505152
GCintronicDe novo--Wilfert2021 G
TCF7L1     AU1640302chr2:
85471243-85471243
GAintronicDe novo--Trost2022 G
Yuen2017 G
TCF7L1     1-0138-004chr2:
85406794-85406794
CTintronicDe novo--Trost2022 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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