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Results for "TFCP2"

Variant Events: 15

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
TFCP2     AU0146301chr12:
51500606-51500606
CGintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     2-1323-003chr12:
51545466-51545466
GAintronicDe novo--Yuen2016 G
TFCP2     7-0168-003chr12:
51496491-51496491
GCintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     AU3057302chr12:
51531524-51531524
ATintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     SSC05370chr12:
51518825-51518825
GAintronicDe novo--Trost2022 G
TFCP2     1-0138-004chr12:
51563271-51563271
GTintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     1-0563-004chr12:
51505761-51505761
GAintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     SMHC01205s000chr12:
51492647-51492647
AATexonicDe novoframeshift insertionNM_001173453
NM_001173452
NM_005653
c.1177dupA
c.1330dupA
c.1330dupA
p.I393fs
p.I444fs
p.I444fs
--Yuan2023 E
TFCP2     AU070007chr12:
51501066-51501066
CTexonicDe novononsynonymous SNVNM_001173453
NM_001173452
NM_005653
c.G628A
c.G781A
c.G781A
p.E210K
p.E261K
p.E261K
22.1-Trost2022 G
Yuen2017 G
Zhou2022 GE
TFCP2     3-0109-000chr12:
51548124-51548124
GTintronicDe novo--Trost2022 G
TFCP2     1-0514-003chr12:
51496739-51496739
CCGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
TFCP2     12679.p1chr12:
51518825-51518825
GAintronicDe novo--Satterstrom2020 E
TFCP2     1-0004-003chr12:
51518417-51518417
TCintronicDe novo--Trost2022 G
Yuen2017 G
TFCP2     SP0081293chr12:
51497454-51497454
TGexonicDe novosynonymous SNVNM_001173453
NM_001173452
NM_005653
c.A906C
c.A1059C
c.A1059C
p.S302S
p.S353S
p.S353S
--Fu2022 E
TFCP2     AU027506chr12:
51519940-51519940
CTintronicDe 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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