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Results for "TCF3"

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
TCF3     1-0372-003chr19:
1655340-1655340
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
TCF3     3-0018-000chr19:
1609766-1609766
GAUTR3De novo--Yuen2017 G
TCF3     AU3517301chr19:
1636155-1636155
TAintronicDe novo--Yuen2017 G
TCF3     7-0058-003chr19:
1727580-1727580
GAintergenicDe novo--Yuen2017 G
TCF3     AU074503chr19:
1642313-1642313
ACintronicDe novo--Yuen2017 G
TCF3     12261.p1chr19:
1619130-1619130
CTexonicDe novononsynonymous SNVNM_001136139
NM_003200
c.G1430A
c.G1430A
p.R477Q
p.R477Q
9.7962.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TCF3     1-0507-003chr19:
1623435-1623435
GAintronicDe novo--Yuen2017 G
TCF3     09C97625 Complex Event; expand row to view variants  De novononsynonymous SNV, frameshift insertionNM_001136139
NM_003200
NM_001136139
NM_003200
c.1382dupA
c.1382dupA
c.C1383A
c.C1383A
p.N461fs
p.N461fs
p.N461K
p.N461K
14.78-DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
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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