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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     AU071204chr20:
55222850-55222850
CGintergenicDe novo--Yuen2017 G
TFAP2C     AU3808304chr20:
55212895-55212895
CTexonicDe novosynonymous SNVNM_003222c.C1179Tp.F393F--Yuen2017 G
TFAP2C     AU066404chr20:
55636828-55636828
TGintergenicDe novo--Yuen2017 G
TFAP2C     2-1254-003chr20:
55531007-55531007
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
TFAP2C     7-0255-003chr20:
55419143-55419143
GTintergenicDe novo--Yuen2017 G
TFAP2C     1-0193-003chr20:
55439850-55439850
GCintergenicDe novo--Yuen2017 G
TFAP2C     1-0259-005chr20:
55739465-55739465
AGintergenicDe novo--Yuen2017 G
TFAP2C     AU4215302chr20:
55494032-55494032
GAintergenicDe novo--Yuen2017 G
TFAP2C     11689.p1chr20:
55209299-55209299
GAexonicMosaicsynonymous SNVNM_003222c.G897Ap.V299V--Dou2017 E
TFAP2C     2-1146-003chr20:
55237369-55237369
GAintergenicDe novo--Yuen2017 G
TFAP2C     2-0289-003chr20:
55282143-55282143
CTintergenicDe novo--Yuen2017 G
TFAP2C     JASD_Fam0174chr20:
55209316-55209316
TGexonicDe novostopgainNM_003222c.T914Gp.L305X42.0-Takata2018 E
TFAP2C     1-0467-005chr20:
55279951-55279951
CCTTTTTintergenicDe novo--Yuen2017 G
TFAP2C     1-0186-004chr20:
55388810-55388810
TCintergenicDe novo--Yuen2017 G
TFAP2C     AU4013301chr20:
55338558-55338558
TCintergenicDe novo--Yuen2017 G
TFAP2C     AU076808chr20:
55629691-55629691
GAintergenicDe novo--Yuen2017 G
TFAP2C     A19chr20:
55471688-55471688
GAintergenicDe novo--Wu2018 G
TFAP2C     2-0242-004chr20:
55298419-55298419
CTintergenicDe novo--Yuen2017 G
TFAP2C     A19chr20:
55471680-55471680
AGintergenicDe novo--Wu2018 G
TFAP2C     2-1169-003chr20:
55407487-55407487
TCintergenicDe novo--Yuen2017 G
TFAP2C     AU2140306chr20:
55252836-55252838
CCTCintergenicDe novo--Yuen2017 G
TFAP2C     AU1894303chr20:
55406988-55406988
CTintergenicDe novo--Yuen2017 G
TFAP2C     AU1955302chr20:
55599059-55599059
AGintergenicDe novo--Yuen2017 G
TFAP2C     AU3680301chr20:
55270996-55270996
CTintergenicDe novo--Yuen2017 G
TFAP2C     1-0186-005chr20:
55534937-55534937
CTintergenicDe novo--Yuen2017 G
TFAP2C     AU3124302chr20:
55370274-55370274
GCintergenicDe novo--Yuen2017 G
TFAP2C     1-0533-003chr20:
55613936-55613936
CTintergenicDe novo--Yuen2017 G
TFAP2C     NP027chr20:
55209316-55209316
TGexonicDe novostopgainNM_003222c.T914Gp.L305X42.0-Lim2017 E
Satterstrom2020 E
TFAP2C     2-0238-004chr20:
55350736-55350736
GTintergenicDe novo--Yuen2017 G
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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