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Results for "TCF3"

Variant Events: 22

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     2-1090-003chr19:
1648623-1648623
TCintronicDe novo--Trost2022 G
TCF3     3-0018-000chr19:
1609766-1609766
GAUTR3De novo--Trost2022 G
Yuen2017 G
TCF3     1-0695-004chr19:
1636915-1636915
TTGAAintronicDe novo--Trost2022 G
TCF3     AU3517301chr19:
1636155-1636155
TAintronicDe novo--Trost2022 G
Yuen2017 G
TCF3     REACH000242chr19:
1645978-1645978
CTintronicDe novo--Trost2022 G
TCF3     4-0064-004chr19:
1634359-1634359
CTintronicDe novo--Trost2022 G
TCF3     SP0084858chr19:
1623943-1623943
GAintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
TCF3     5-0023-003chr19:
1635960-1635960
GAintronicDe novo--Trost2022 G
TCF3     1-0951-003chr19:
1612598-1612598
AGintronicDe novo--Trost2022 G
TCF3     7-0365-004chr19:
1615808-1615808
GAexonicDe novononsynonymous SNVNM_001136139
NM_003200
c.C1463T
c.C1463T
p.A488V
p.A488V
9.932-Trost2022 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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
TCF3     1-0507-003chr19:
1623435-1623435
GAintronicDe novo--Trost2022 G
Yuen2017 G
TCF3     09C97625 Complex Event; expand row to view variants  De novoframeshift insertion, nonsynonymous SNVNM_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
Fu2022 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Willsey2013 E
Zhou2022 GE
TCF3     1-0372-003chr19:
1655340-1655340
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
TCF3     SP0130992chr19:
1622125-1622125
CCGexonicframeshift insertionNM_001136139
NM_003200
c.749dupC
c.749dupC
p.P250fs
p.P250fs
--Zhou2022 GE
TCF3     7-0058-003chr19:
1727580-1727580
GAintergenicDe novo--Yuen2017 G
TCF3     AU074503chr19:
1642313-1642313
ACintronicDe novo--Yuen2017 G
TCF3     SP0005392chr19:
1627342-1627342
GAintronicDe novo--Fu2022 E
TCF3     SP0139139chr19:
1619075-1619075
CGintronicDe novo--Fu2022 E
Trost2022 G
TCF3     SP0119719chr19:
1646452-1646452
ATintronicDe novo--Fu2022 E
TCF3     SP0017597chr19:
1632023-1632023
GCintronicDe novo--Fu2022 E
TCF3     SP0150010chr19:
1612320-1612320
GAexonicDe novononsynonymous SNVNM_001136139c.C1699Tp.R567W21.44.169E-5Fu2022 E
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
Curation notesView
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