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Results for "TUBGCP4"

Variant Events: 11

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
TUBGCP4     13537.p1 Complex Event; expand row to view variants  De novosplicing--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
TUBGCP4     SSC08711chr15:
43694048-43694052
TGTAATsplicingDe novosplicing--Fu2022 E
Trost2022 G
TUBGCP4     2-0006-003chr15:
43676037-43676037
CTintronicDe novo--Trost2022 G
Yuen2017 G
TUBGCP4     AU3885304chr15:
43680648-43680648
AGintronicDe novo--Trost2022 G
Yuen2017 G
TUBGCP4     SSC08937chr15:
43692324-43692324
CTexonicDe novononsynonymous SNVNM_001286414
NM_014444
c.C1504T
c.C1501T
p.R502C
p.R501C
16.61-Fu2022 E
Lim2017 E
TUBGCP4     MSSNG00411-003chr15:
43693110-43693110
CTintronicDe novo--Trost2022 G
TUBGCP4     SP0035755chr15:
43668361-43668361
CTexonicsynonymous SNVNM_001286414
NM_014444
c.C144T
c.C144T
p.L48L
p.L48L
-1.656E-5Zhou2022 GE
TUBGCP4     SP0005740chr15:
43696780-43696780
ACintronicDe novo--Fu2022 E
TUBGCP4     SP0152949chr15:
43691297-43691297
TCintronicDe novo--Trost2022 G
TUBGCP4     AU3905302chr15:
43678156-43678156
TCsplicingPaternalsplicing23.1-Cirnigliaro2023 G
TUBGCP4     13651.p1chr15:
43692324-43692324
CTexonicDe novononsynonymous SNVNM_001286414
NM_014444
c.C1504T
c.C1501T
p.R502C
p.R501C
16.61-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Wilfert2021 G
Zhou2022 GE
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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