Variant Results

or

Results for "TCF20"

Variant Events: 45

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

TCF20

2-0244-003

chr22:
42599370-42599370

T

C

intronic

De novo

-

Yuen2017 G

TCF20

1-0820-003

chr22:
42628456-42628456

A

G

intronic

De novo

-

Yuen2017 G

TCF20

SMHC00860s000

chr22:
42609988-42609988

C

CT

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.1323dupA
c.1323dupA

p.G442fs
p.G442fs

-

Yuan2023 E

TCF20

1-0736-003

chr22:
42719994-42719994

G

T

intergenic

De novo

-

Yuen2017 G

TCF20

5-0018-003

chr22:
42701316-42701316

T

A

intergenic

De novo

-

Yuen2017 G

TCF20

SP0085401

chr22:
42607957-42607957

G

GC

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.3354dupG
c.3354dupG

p.P1119fs
p.P1119fs

-

Antaki2022 GE
Fu2022 E

TCF20

AU3809302

chr22:
42662565-42662565

C

T

intronic

De novo

-

Yuen2017 G

TCF20

SP0055226

chr22:
42609604-42609605

TG

T

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.1707delC
c.1707delC

p.P569fs
p.P569fs

-

Antaki2022 GE
Fu2022 E

TCF20

1-0565-004

chr22:
42712946-42712946

T

C

intergenic

De novo

-

Yuen2017 G

TCF20

1-0565-004

chr22:
42706903-42706903

G

T

intergenic

De novo

-

Yuen2017 G

TCF20

1-0835-003

chr22:
42747634-42747634

C

T

intergenic

De novo

-

Yuen2017 G

TCF20

1-0565-004

chr22:
42700068-42700068

G

A

intergenic

De novo

-

Yuen2017 G

TCF20

SP0031609

chr22:
42609560-42609560

T

C

exonic

De novo

synonymous SNV

NM_181492
NM_005650

c.A1752G
c.A1752G

p.P584P
p.P584P

-

Fu2022 E

TCF20

SP0145564

chr22:
42609195-42609195

C

T

exonic

De novo

nonsynonymous SNV

NM_181492
NM_005650

c.G2117A
c.G2117A

p.R706H
p.R706H

17.76

1.647E-5

Fu2022 E

TCF20

G01-GEA-219-HI

chr22:
42610104-42610104

A

T

exonic

De novo

nonsynonymous SNV

NM_181492
NM_005650

c.T1208A
c.T1208A

p.V403E
p.V403E

16.09

-

Fu2022 E
Satterstrom2020 E

TCF20

G01-GEA-289-HI

chr22:
42607367-42607369

ATC

A

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.3943_3944del
c.3943_3944del

p.D1315fs
p.D1315fs

-

Fu2022 E
Satterstrom2020 E

TCF20

11571_p1

chr22:
42610361-42610361

T

TTGC

exonic

De novo

nonframeshift insertion

NM_181492
NM_005650

c.950_951insGCA
c.950_951insGCA

p.Q317delinsQQ
p.Q317delinsQQ

-

8.238E-6

Fu2022 E

TCF20

Torti2019:7

chr22:
42609352-42609352

G

A

exonic

Unknown

stopgain

NM_181492
NM_005650

c.C1960T
c.C1960T

p.Q654X
p.Q654X

39.0

-

Torti2019 T

TCF20

Torti2019:6

chr22:
42609501-42609503

ACA

A

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.1809_1810del
c.1809_1810del

p.T603fs
p.T603fs

-

Torti2019 T

TCF20

A11

chr22:
42592749-42592749

T

C

intronic

De novo

-

Wu2018 G

TCF20

Torti2019:9

chr22:
42609157-42609157

G

A

exonic

De novo

stopgain

NM_181492
NM_005650

c.C2155T
c.C2155T

p.R719X
p.R719X

39.0

-

Torti2019 T

TCF20

Torti2019:8

chr22:
42609222-42609224

TCA

T

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.2088_2089del
c.2088_2089del

p.T696fs
p.T696fs

-

Torti2019 T

TCF20

Torti2019:1

chr22:
42610954-42610954

G

GG

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.358dupC
c.358dupC

p.P120fs
p.P120fs

-

Torti2019 T

TCF20

AU031204

chr22:
42654734-42654734

T

C

intronic

De novo

-

Yuen2017 G

TCF20

Torti2019:5

chr22:
42609609-42609610

GG

G

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.1702delC
c.1702delC

p.P568fs
p.P568fs

-

Torti2019 T

TCF20

Torti2019:2

chr22:
42610689-42610690

AG

A

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.622delC
c.622delC

p.L208fs
p.L208fs

-

Torti2019 T

TCF20

Torti2019:17a

chr22:
42607510-42607512

TCT

T

exonic

Unknown

frameshift deletion

NM_181492
NM_005650

c.3800_3801del
c.3800_3801del

p.K1267fs
p.K1267fs

-

Torti2019 T

TCF20

Torti2019:15

chr22:
42607708-42607708

C

CC

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.3604dupG
c.3604dupG

p.G1202fs
p.G1202fs

-

Torti2019 T

TCF20

Torti2019:17c

chr22:
42607510-42607512

TCT

T

exonic

Unknown

frameshift deletion

NM_181492
NM_005650

c.3800_3801del
c.3800_3801del

p.K1267fs
p.K1267fs

-

Torti2019 T

TCF20

Torti2019:17b

chr22:
42607510-42607512

TCT

T

exonic

Unknown

frameshift deletion

NM_181492
NM_005650

c.3800_3801del
c.3800_3801del

p.K1267fs
p.K1267fs

-

Torti2019 T

TCF20

Torti2019:10b

chr22:
42609088-42609088

G

A

exonic

Unknown

stopgain

NM_181492
NM_005650

c.C2224T
c.C2224T

p.R742X
p.R742X

40.0

-

Torti2019 T

TCF20

Torti2019:10a

chr22:
42609088-42609088

G

A

exonic

Unknown

stopgain

NM_181492
NM_005650

c.C2224T
c.C2224T

p.R742X
p.R742X

40.0

-

Torti2019 T

TCF20

Hu2022:5

chr22:
42608732-42608734

GAG

G

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.2578_2579del
c.2578_2579del

p.L860fs
p.L860fs

-

Hu2022 T

TCF20

Torti2019:14

chr22:
42607826-42607826

G

GG

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.3486dupC
c.3486dupC

p.R1162fs
p.R1162fs

-

Torti2019 T

TCF20

Torti2019:12

chr22:
42608718-42608718

G

C

exonic

De novo

stopgain

NM_181492
NM_005650

c.C2594G
c.C2594G

p.S865X
p.S865X

40.0

-

Torti2019 T

TCF20

2-1731-003

chr22:
42656417-42656417

C

T

intronic

De novo

-

Yuen2017 G

TCF20

2-1460-003

chr22:
42570837-42570837

C

A

intronic

De novo

-

Yuen2017 G

TCF20

1-1004-003

chr22:
42610276-42610276

G

A

exonic

De novo

stopgain

NM_181492
NM_005650

c.C1036T
c.C1036T

p.Q346X
p.Q346X

23.7

-

Yuen2017 G

TCF20

2-1429-003

chr22:
42629802-42629802

T

G

intronic

De novo

-

Yuen2017 G

TCF20

Torti2019:23

chr22:
42605927-42605929

ACA

A

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.5383_5384del
c.5383_5384del

p.C1795fs
p.C1795fs

-

Torti2019 T

TCF20

Torti2019:21

chr22:
42606368-42606369

TG

T

exonic

De novo

frameshift deletion

NM_181492
NM_005650

c.4943delC
c.4943delC

p.T1648fs
p.T1648fs

-

Torti2019 T

TCF20

IGM10609

chr22:
42608019-42608019

T

TA

exonic

De novo

frameshift insertion

NM_181492
NM_005650

c.3292_3293insT
c.3292_3293insT

p.K1098fs
p.K1098fs

-

Fu2022 E
Satterstrom2020 E

TCF20

Torti2019:24

chr22:
42575639-42575639

G

A

exonic

De novo

nonsynonymous SNV

NM_181492
NM_005650

c.C5725T
c.C5725T

p.H1909Y
p.H1909Y

23.8

-

Torti2019 T

TCF20

7-0127-003

chr22:
42652087-42652098

GGTCTACCCAAA

G

intronic

De novo

-

Yuen2017 G

TCF20

1-0201-004

chr22:
42693184-42693184

C

T

intergenic

De novo

-

Yuen2017 G

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
	More