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Exact

Results for "TCF4"

Variant Events: 53

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
TCF4     M16274chr18:
52937148-52937148
GAexonicMaternalnonsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C356T
c.C356T
c.C356T
c.C623T
c.C446T
c.C623T
c.C710T
c.C764T
c.C830T
c.C764T
c.C836T
c.C854T
c.C836T
c.C1142T
p.P119L
p.P119L
p.P119L
p.P208L
p.P149L
p.P208L
p.P237L
p.P255L
p.P277L
p.P255L
p.P279L
p.P285L
p.P279L
p.P381L
35.08.256E-6Guo2018 T
Wang2016 T
TCF4     11089.p1chr18:
53106514-53106514
TGintronicDe novo--Turner2016 G
TCF4     12493.p1chr18:
53315652-53315652
CGintergenicDe novo--Turner2016 G
TCF4     Li2017:21404chr18:
52921925-52921925
GAexonicDe novostopgainNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C673T
c.C673T
c.C673T
c.C940T
c.C763T
c.C940T
c.C1027T
c.C1081T
c.C1144T
c.C1081T
c.C1153T
c.C1171T
c.C1153T
c.C1459T
p.R225X
p.R225X
p.R225X
p.R314X
p.R255X
p.R314X
p.R343X
p.R361X
p.R382X
p.R361X
p.R385X
p.R391X
p.R385X
p.R487X
37.0-Li2017 T
TCF4     1-0346-004chr18:
53049105-53049105
TAintronicDe novo--Yuen2017 G
TCF4     Li2017:16274chr18:
52937148-52937148
GAexonicUnknownnonsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C356T
c.C356T
c.C356T
c.C623T
c.C446T
c.C623T
c.C710T
c.C764T
c.C830T
c.C764T
c.C836T
c.C854T
c.C836T
c.C1142T
p.P119L
p.P119L
p.P119L
p.P208L
p.P149L
p.P208L
p.P237L
p.P255L
p.P277L
p.P255L
p.P279L
p.P285L
p.P279L
p.P381L
35.08.256E-6Li2017 T
TCF4     AU3761301chr18:
52974124-52974124
CGintronicDe novo--Yuen2017 G
TCF4     13143.p1chr18:
53523725-53523725
AGintergenicDe novo--Wilfert2021 G
TCF4     2-1127-003chr18:
53401374-53401374
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
TCF4     5-0077-004chr18:
53345753-53345753
CTintergenicDe novo--Yuen2017 G
TCF4     M15228chr18:
52896219-52896219
GAexonicUnknownnonsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C1258T
c.C1246T
c.C1246T
c.C1525T
c.C1336T
c.C1513T
c.C1600T
c.C1666T
c.C1717T
c.C1654T
c.C1738T
c.C1756T
c.C1726T
c.C2044T
p.R420W
p.R416W
p.R416W
p.R509W
p.R446W
p.R505W
p.R534W
p.R556W
p.R573W
p.R552W
p.R580W
p.R586W
p.R576W
p.R682W
29.0-Stessman2017 T
TCF4     2-1357-003chr18:
52945544-52945544
CTintronicDe novo--Yuen2017 G
TCF4     SP0065576chr18:
52896116-52896116
GAexonicDe novononsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C1361T
c.C1349T
c.C1349T
c.C1628T
c.C1439T
c.C1616T
c.C1703T
c.C1769T
c.C1820T
c.C1757T
c.C1841T
c.C1859T
c.C1829T
c.C2147T
p.A454V
p.A450V
p.A450V
p.A543V
p.A480V
p.A539V
p.A568V
p.A590V
p.A607V
p.A586V
p.A614V
p.A620V
p.A610V
p.A716V
32.0-Antaki2022 GE
Fu2022 E
TCF4     2-1148-004chr18:
53512923-53512923
GAintergenicDe novo--Yuen2017 G
TCF4     AU4079302chr18:
53392628-53392628
CGintergenicDe novo--Yuen2017 G
TCF4     3-0065-000chr18:
53377446-53377446
TCintergenicDe novo--Yuen2017 G
TCF4     AU047904chr18:
52936943-52936943
TAintronicDe novo--Yuen2017 G
TCF4     5-0077-003chr18:
53360372-53360374
CTGCintergenicDe novo--Yuen2017 G
TCF4     2-1089-004chr18:
53415662-53415662
GGTGCintergenicDe novo--Yuen2017 G
TCF4     1-0683-004chr18:
53095755-53095755
TCintronicDe novo--Yuen2017 G
TCF4     74-0688chr18:
52889988-52889988
CTUTR3De novo--Michaelson2012 G
TCF4     2-0244-003chr18:
53070947-53070947
CGUTR5De novo--Yuen2017 G
TCF4     12358.p1chr18:
52928697-52928697
CTexonicDe novosynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.G510A
c.G510A
c.G510A
c.G777A
c.G600A
c.G777A
c.G864A
c.G918A
c.G984A
c.G918A
c.G990A
c.G1008A
c.G990A
c.G1296A
p.S170S
p.S170S
p.S170S
p.S259S
p.S200S
p.S259S
p.S288S
p.S306S
p.S328S
p.S306S
p.S330S
p.S336S
p.S330S
p.S432S
--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
TCF4     AU4028302chr18:
53444562-53444562
TCintergenicDe novo--Yuen2017 G
TCF4     iHART3069chr18:
53298578-53298578
CTexonicMaternalstopgainNM_001243226c.G237Ap.W79X14.591.0E-4Ruzzo2019 G
TCF4     AU4188302chr18:
53394637-53394637
CTintergenicDe novo--Yuen2017 G
TCF4     V9Y8Echr18:
53017634-53017634
GAexonicInheritedstopgainNM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C292T
c.C115T
c.C292T
c.C379T
c.C433T
c.C499T
c.C433T
c.C505T
c.C505T
c.C505T
c.C811T
p.Q98X
p.Q39X
p.Q98X
p.Q127X
p.Q145X
p.Q167X
p.Q145X
p.Q169X
p.Q169X
p.Q169X
p.Q271X
20.9-Stessman2017 T
TCF4     1-0763-004chr18:
53188232-53188232
TAintronicDe novo--Yuen2017 G
TCF4     1-0368-004chr18:
53097103-53097103
AAGGTCTTGACATintronicDe novo--Yuen2017 G
TCF4     1-0246-004chr18:
53244014-53244014
TCintronicDe novo--Yuen2017 G
TCF4     2-1127-003chr18:
52953906-52953906
AGintronicDe novo--Yuen2017 G
TCF4     HN0002.p1chr18:
53302936-53302936
CAexonicPaternalstopgainNM_001243226c.G193Tp.E65X12.82-Guo2018 T
TCF4     1-0448-003chr18:
53178684-53178684
TGintronicDe novo--Yuen2017 G
TCF4     1-0059-003chr18:
53500875-53500875
ATintergenicDe novo--Yuen2017 G
TCF4     AU122Achr18:
52895538-52895539
ACAexonicDe novoframeshift deletionNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.1453delG
c.1441delG
c.1441delG
c.1720delG
c.1531delG
c.1708delG
c.1795delG
c.1861delG
c.1912delG
c.1849delG
c.1933delG
c.1951delG
c.1921delG
c.2239delG
p.V485fs
p.V481fs
p.V481fs
p.V574fs
p.V511fs
p.V570fs
p.V599fs
p.V621fs
p.V638fs
p.V617fs
p.V645fs
p.V651fs
p.V641fs
p.V747fs
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
TCF4     Mahjani2021:86chr18:
52896231-52896231
GAexonicstopgainNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C1246T
c.C1234T
c.C1234T
c.C1513T
c.C1324T
c.C1501T
c.C1588T
c.C1654T
c.C1705T
c.C1642T
c.C1726T
c.C1744T
c.C1714T
c.C2032T
p.R416X
p.R412X
p.R412X
p.R505X
p.R442X
p.R501X
p.R530X
p.R552X
p.R569X
p.R548X
p.R576X
p.R582X
p.R572X
p.R678X
39.0-Mahjani2021 E
TCF4     80001100859chr18:
52896231-52896231
GAexonicDe novostopgainNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C1246T
c.C1234T
c.C1234T
c.C1513T
c.C1324T
c.C1501T
c.C1588T
c.C1654T
c.C1705T
c.C1642T
c.C1726T
c.C1744T
c.C1714T
c.C2032T
p.R416X
p.R412X
p.R412X
p.R505X
p.R442X
p.R501X
p.R530X
p.R552X
p.R569X
p.R548X
p.R576X
p.R582X
p.R572X
p.R678X
39.0-Fu2022 E
Satterstrom2020 E
TCF4     SSC03715chr18:
52927064-52927064
GTintronicDe novo--Fu2022 E
TCF4     M04463chr18:
52928723-52928723
CTexonicMaternalnonsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.G484A
c.G484A
c.G484A
c.G751A
c.G574A
c.G751A
c.G838A
c.G892A
c.G958A
c.G892A
c.G964A
c.G982A
c.G964A
c.G1270A
p.D162N
p.D162N
p.D162N
p.D251N
p.D192N
p.D251N
p.D280N
p.D298N
p.D320N
p.D298N
p.D322N
p.D328N
p.D322N
p.D424N
35.0-Guo2018 T
Wang2016 T
TCF4     SD0100.p1chr18:
53255760-53255760
GGTexonicPaternalframeshift insertionNM_001243230c.6dupAp.R3fs--Guo2018 T
TCF4     2-1194-003chr18:
53511375-53511375
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
TCF4     7-0160-003chr18:
53391469-53391469
ACintergenicDe novo--Yuen2017 G
TCF4     SP0100556chr18:
52895594-52895594
TCsplicingDe novosplicing18.96-Fu2022 E
TCF4     1-0656-003chr18:
52896218-52896218
CTexonicDe novononsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.G1259A
c.G1247A
c.G1247A
c.G1526A
c.G1337A
c.G1514A
c.G1601A
c.G1667A
c.G1718A
c.G1655A
c.G1739A
c.G1757A
c.G1727A
c.G2045A
p.R420Q
p.R416Q
p.R416Q
p.R509Q
p.R446Q
p.R505Q
p.R534Q
p.R556Q
p.R573Q
p.R552Q
p.R580Q
p.R586Q
p.R576Q
p.R682Q
36.0-Yuen2017 G
TCF4     SP0029214chr18:
53298692-53298693
AGAintronicDe novo--Fu2022 E
TCF4     AU3811305chr18:
53405022-53405022
CTintergenicDe novo--Yuen2017 G
TCF4     1-0394-003chr18:
53157229-53157229
CAintronicDe novo--Yuen2017 G
TCF4     AU2793303chr18:
53186918-53186918
TCintronicDe novo--Yuen2017 G
TCF4     1-0636-003chr18:
53437539-53437539
CTintergenicDe novo--Yuen2017 G
TCF4     2-1246-003chr18:
53423387-53423387
GAintergenicDe novo--Yuen2017 G
TCF4     AU4284301chr18:
53246510-53246510
TCintronicDe novo--Yuen2017 G
TCF4     1-0986-003chr18:
53279372-53279372
AGintronicDe novo--Yuen2017 G
TCF4     M21404chr18:
52921925-52921925
GAexonicUnknownstopgainNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226
c.C673T
c.C673T
c.C673T
c.C940T
c.C763T
c.C940T
c.C1027T
c.C1081T
c.C1144T
c.C1081T
c.C1153T
c.C1171T
c.C1153T
c.C1459T
p.R225X
p.R225X
p.R225X
p.R314X
p.R255X
p.R314X
p.R343X
p.R361X
p.R382X
p.R361X
p.R385X
p.R391X
p.R385X
p.R487X
37.0-Guo2018 T
Source Variant Information

, -

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
More