Variant Results

or

or

Results for "TFAP2C"

Variant Events: 29

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

TFAP2C

AU071204

chr20:
55222850-55222850

C

G

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU3808304

chr20:
55212895-55212895

C

T

exonic

De novo

synonymous SNV

NM_003222

c.C1179T

p.F393F

-

-

Yuen2017 G

TFAP2C

AU066404

chr20:
55636828-55636828

T

G

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

2-1254-003

chr20:
55531007-55531007

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

TFAP2C

7-0255-003

chr20:
55419143-55419143

G

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

1-0193-003

chr20:
55439850-55439850

G

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

1-0259-005

chr20:
55739465-55739465

A

G

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU4215302

chr20:
55494032-55494032

G

A

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

11689.p1

chr20:
55209299-55209299

G

A

exonic

Mosaic

synonymous SNV

NM_003222

c.G897A

p.V299V

-

-

Dou2017 E

TFAP2C

2-1146-003

chr20:
55237369-55237369

G

A

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

2-0289-003

chr20:
55282143-55282143

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

JASD_Fam0174

chr20:
55209316-55209316

T

G

exonic

De novo

stopgain

NM_003222

c.T914G

p.L305X

42.0

-

Takata2018 E

TFAP2C

1-0467-005

chr20:
55279951-55279951

C

CTTTTT

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

1-0186-004

chr20:
55388810-55388810

T

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU4013301

chr20:
55338558-55338558

T

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU076808

chr20:
55629691-55629691

G

A

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

A19

chr20:
55471688-55471688

G

A

intergenic

De novo

-

-

Wu2018 G

TFAP2C

2-0242-004

chr20:
55298419-55298419

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

A19

chr20:
55471680-55471680

A

G

intergenic

De novo

-

-

Wu2018 G

TFAP2C

2-1169-003

chr20:
55407487-55407487

T

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU2140306

chr20:
55252836-55252838

CCT

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU1894303

chr20:
55406988-55406988

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU1955302

chr20:
55599059-55599059

A

G

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU3680301

chr20:
55270996-55270996

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

1-0186-005

chr20:
55534937-55534937

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

AU3124302

chr20:
55370274-55370274

G

C

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

1-0533-003

chr20:
55613936-55613936

C

T

intergenic

De novo

-

-

Yuen2017 G

TFAP2C

NP027

chr20:
55209316-55209316

T

G

exonic

De novo

stopgain

NM_003222

c.T914G

p.L305X

42.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E

TFAP2C

2-0238-004

chr20:
55350736-55350736

G

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
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