Variant Results

or

Results for "TCF4"

Variant Events: 82

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

mAGRE3069

chr18:
53298578-53298578

C

T

exonic

Maternal

stopgain

NM_001243226

c.G237A

p.W79X

14.59

1.0E-4

Cirnigliaro2023 G

TCF4

M16274

chr18:
52937148-52937148

G

A

exonic

Maternal

nonsynonymous SNV

NM_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

35.0

8.256E-6

Guo2018 T
Wang2016 T

TCF4

11089.p1

chr18:
53106514-53106514

T

G

intronic

De novo

-

Turner2016 G

TCF4

12493.p1

chr18:
53315652-53315652

C

G

intergenic

De novo

-

Turner2016 G

TCF4

Li2017:21404

chr18:
52921925-52921925

G

A

exonic

De novo

stopgain

NM_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

1-0346-004

chr18:
53049105-53049105

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

Li2017:16274

chr18:
52937148-52937148

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

35.0

8.256E-6

Li2017 T

TCF4

AU3761301

chr18:
52974124-52974124

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

2-1270-005

chr18:
53008806-53008806

T

C

intronic

De novo

-

Trost2022 G

TCF4

4-0062-003

chr18:
53024973-53024975

GTA

TTT

intronic

De novo

-

Trost2022 G

TCF4

SP0004844

chr18:
52989656-52989656

G

A

intronic

De novo

-

Trost2022 G

TCF4

SP0086863

chr18:
52989656-52989656

G

A

intronic

De novo

-

Trost2022 G

TCF4

MSSNG00078-003

chr18:
52950738-52950738

T

C

intronic

De novo

-

Trost2022 G

TCF4

7-0413-003

chr18:
52963243-52963243

T

A

intronic

De novo

-

Trost2022 G

TCF4

7-0461-003

chr18:
52931637-52931637

C

T

intronic

De novo

-

Trost2022 G

TCF4

13143.p1

chr18:
53523725-53523725

A

G

intergenic

De novo

-

Wilfert2021 G

TCF4

REACH000504

chr18:
52936185-52936185

T

A

intronic

De novo

-

Trost2022 G

TCF4

2-1075-003

chr18:
53172593-53172593

T

G

intronic

De novo

-

Trost2022 G

TCF4

1-0264-005

chr18:
53195243-53195243

T

G

intronic

De novo

-

Trost2022 G

TCF4

2-1127-003

chr18:
53401374-53401374

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCF4

5-0077-004

chr18:
53345753-53345753

C

T

intergenic

De novo

-

Yuen2017 G

TCF4

SJD_59.3

chr18:
53072401-53072401

C

T

intronic

De novo

-

Trost2022 G

TCF4

AU2729301

chr18:
53164994-53164994

G

A

intronic

De novo

-

Trost2022 G

TCF4

AU060403

chr18:
53067125-53067125

A

T

intronic

De novo

-

Trost2022 G

TCF4

SP0050934

chr18:
53068853-53068853

G

A

intronic

De novo

-

Trost2022 G

TCF4

4-0073-003

chr18:
53024973-53024975

GTA

TTT

intronic

De novo

-

Trost2022 G

TCF4

M15228

chr18:
52896219-52896219

G

A

exonic

Unknown

nonsynonymous SNV

NM_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

1-1063-004

chr18:
53053196-53053196

T

C

intronic

De novo

-

Trost2022 G

TCF4

3-0719-000

chr18:
53287367-53287367

C

T

intronic

De novo

-

Trost2022 G

TCF4

2-1357-003

chr18:
52945544-52945544

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

1-0859-003

chr18:
53298315-53298315

C

G

intronic

De novo

-

Trost2022 G

TCF4

SP0065576

chr18:
52896116-52896116

G

A

exonic

De novo

nonsynonymous SNV

NM_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
Trost2022 G
Zhou2022 GE

TCF4

MSSNG00255-003

chr18:
53266899-53266899

C

A

intronic

De novo

-

Trost2022 G

TCF4

3-0099-001A

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

TCF4

2-1148-004

chr18:
53512923-53512923

G

A

intergenic

De novo

-

Yuen2017 G

TCF4

AU4079302

chr18:
53392628-53392628

C

G

intergenic

De novo

-

Yuen2017 G

TCF4

4-0069-003

chr18:
53265896-53265896

T

TATGGCC

intronic

De novo

-

Trost2022 G

TCF4

REACH000767

chr18:
53266042-53266045

ACAG

A

intronic

De novo

-

Trost2022 G

TCF4

3-0065-000

chr18:
53377446-53377446

T

C

intergenic

De novo

-

Yuen2017 G

TCF4

AU047904

chr18:
52936943-52936943

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

REACH000120

chr18:
53201931-53201931

T

TA

intronic

De novo

-

Trost2022 G

TCF4

5-0077-003

chr18:
53360372-53360374

CTG

C

intergenic

De novo

-

Yuen2017 G

TCF4

4-0010-003

chr18:
53255439-53255439

A

T

UTR5

De novo

-

Trost2022 G

TCF4

2-1089-004

chr18:
53415662-53415662

G

GTGC

intergenic

De novo

-

Yuen2017 G

TCF4

1-0683-004

chr18:
53095755-53095755

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

SMHC01656s000

chr18:
52896077-52896077

C

T

splicing

De novo

splicing

28.7

-

Yuan2023 E

TCF4

74-0688

chr18:
52889988-52889988

C

T

UTR3

De novo

-

Michaelson2012 G

TCF4

2-0244-003

chr18:
53070947-53070947

C

G

UTR5

De novo

-

Trost2022 G
Yuen2017 G

TCF4

12358.p1

chr18:
52928697-52928697

C

T

exonic

De novo

synonymous SNV

NM_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
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TCF4

AU4028302

chr18:
53444562-53444562

T

C

intergenic

De novo

-

Yuen2017 G

TCF4

iHART3069

chr18:
53298578-53298578

C

T

exonic

Maternal

stopgain

NM_001243226

c.G237A

p.W79X

14.59

1.0E-4

Ruzzo2019 G

TCF4

AU4188302

chr18:
53394637-53394637

C

T

intergenic

De novo

-

Yuen2017 G

TCF4

V9Y8E

chr18:
53017634-53017634

G

A

exonic

Inherited

stopgain

NM_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

1-0763-004

chr18:
53188232-53188232

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

1-0368-004

chr18:
53097103-53097103

A

AGGTCTTGACAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

1-0246-004

chr18:
53244014-53244014

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

2-1127-003

chr18:
52953906-52953906

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

HN0002.p1

chr18:
53302936-53302936

C

A

exonic

Paternal

stopgain

NM_001243226

c.G193T

p.E65X

12.82

-

Guo2018 T

TCF4

1-0448-003

chr18:
53178684-53178684

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

1-0059-003

chr18:
53500875-53500875

A

T

intergenic

De novo

-

Yuen2017 G

TCF4

AU122A

chr18:
52895538-52895539

AC

A

exonic

De novo

frameshift deletion

NM_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
Trost2022 G
Zhou2022 GE

TCF4

Mahjani2021:86

chr18:
52896231-52896231

G

A

exonic

stopgain

NM_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

80001100859

chr18:
52896231-52896231

G

A

exonic

De novo

stopgain

NM_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
Trost2022 G
Zhou2022 GE

TCF4

SP0229723

chr18:
52896252-52896252

G

A

exonic

nonsynonymous SNV

NM_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.C1225T
c.C1213T
c.C1213T
c.C1492T
c.C1303T
c.C1480T
c.C1567T
c.C1633T
c.C1684T
c.C1621T
c.C1705T
c.C1723T
c.C1693T
c.C2011T

p.R409W
p.R405W
p.R405W
p.R498W
p.R435W
p.R494W
p.R523W
p.R545W
p.R562W
p.R541W
p.R569W
p.R575W
p.R565W
p.R671W

21.8

-

Zhou2022 GE

TCF4

SSC03715

chr18:
52927064-52927064

G

T

intronic

De novo

-

Fu2022 E

TCF4

M04463

chr18:
52928723-52928723

C

T

exonic

Maternal

nonsynonymous SNV

NM_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.p1

chr18:
53255760-53255760

G

GT

exonic

Paternal

frameshift insertion

NM_001243230

c.6dupA

p.R3fs

-

Guo2018 T

TCF4

SP0198629

chr18:
53017588-53017588

A

C

splicing

19.22

-

Zhou2022 GE

TCF4

2-1194-003

chr18:
53511375-53511375

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCF4

7-0160-003

chr18:
53391469-53391469

A

C

intergenic

De novo

-

Yuen2017 G

TCF4

MSSNG00131-003

chr18:
53302942-53302942

G

A

exonic

De novo

nonsynonymous SNV

NM_001243226

c.C187T

p.P63S

8.264

-

Trost2022 G
Zhou2022 GE

TCF4

SP0100556

chr18:
52895594-52895594

T

C

splicing

De novo

splicing

18.96

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TCF4

1-0656-003

chr18:
52896218-52896218

C

T

exonic

De novo

nonsynonymous SNV

NM_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

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TCF4

SP0029214

chr18:
53298692-53298693

AG

A

intronic

De novo

-

Fu2022 E

TCF4

AU3811305

chr18:
53405022-53405022

C

T

intergenic

De novo

-

Yuen2017 G

TCF4

1-0394-003

chr18:
53157229-53157229

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

AU2793303

chr18:
53186918-53186918

T

C

intronic

De novo

-

Yuen2017 G

TCF4

1-0636-003

chr18:
53437539-53437539

C

T

intergenic

De novo

-

Yuen2017 G

TCF4

2-1246-003

chr18:
53423387-53423387

G

A

intergenic

De novo

-

Yuen2017 G

TCF4

AU4284301

chr18:
53246510-53246510

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

1-0986-003

chr18:
53279372-53279372

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF4

M21404

chr18:
52921925-52921925

G

A

exonic

Unknown

stopgain

NM_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 notes	View
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