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Results for "TACC1"

Variant Events: 14

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
TACC1     AU3955303chr8:
38649300-38649300
GAintronicDe novo--Yuen2017 G
TACC1     1-0551-004chr8:
38599644-38599644
AGintronicDe novo--Yuen2017 G
TACC1     Lim2017:70468chr8:
38645085-38645085
CGUTR5De novo--Lim2017 E
TACC1     2-1336-003chr8:
38705481-38705481
ATexonicDe novononsynonymous SNVNM_001122824
NM_001146216
NM_006283
c.A1128T
c.A1773T
c.A2358T
p.E376D
p.E591D
p.E786D
21.8-Yuen2015 G
Yuen2017 G
TACC1     A8chr8:
38693907-38693907
TCintronicDe novo--Wu2018 G
TACC1     1-0745-003chr8:
38708759-38708764
GGATAGGGATAGATAGUTR3De novo--Yuen2017 G
TACC1     iHART3069chr8:
38677676-38677678
CAGCexonicPaternalframeshift deletionNM_001146216
NM_006283
c.330_331del
c.915_916del
p.S110fs
p.S305fs
-8.277E-6Ruzzo2019 G
TACC1     AU4159301chr8:
38713247-38713256
TAGAACAGAATAGAAintergenicDe novo--Yuen2017 G
TACC1     2-1195-003chr8:
38615003-38615003
CTintronicDe novo--Yuen2016 G
TACC1     1-0193-003chr8:
38692984-38692984
TCintronicDe novo--Yuen2017 G
TACC1     AU062204chr8:
38678903-38678903
CTintronicDe novo--Yuen2017 G
TACC1     1-0142-005chr8:
38634011-38634011
CCATintronicDe novo--Yuen2017 G
TACC1     14069.p1chr8:
38645085-38645085
CGUTR5De novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
TACC1     AU4250301chr8:
38698762-38698762
TAintronicDe 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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