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Results for "TUBGCP2"

Variant Events: 6

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
TUBGCP2     1-0324-003chr10:
135092656-135092656
CTUTR3De novo--Yuen2017 G
TUBGCP2     13083.p1chr10:
135094766-135094766
CTintronicDe novo--Krumm2015 E
TUBGCP2     MR_1081_IIchr10:
135105979-135105979
TTCCCCCATGTCCCTCCATGTCintronicDe novo--Satterstrom2020 E
TUBGCP2     DEASD_0383_001chr10:
135106567-135106567
TCexonicDe novononsynonymous SNVNM_001256618
NM_006659
NM_001256617
c.A610G
c.A1000G
c.A1084G
p.T204A
p.T334A
p.T362A
18.51-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
TUBGCP2     152-HSC0079chr10:
135107082-135107082
ATexonicInheritednonsynonymous SNVNM_001256618
NM_006659
NM_001256617
c.T418A
c.T808A
c.T892A
p.Y140N
p.Y270N
p.Y298N
22.25.173E-5Patowary2019 E
TUBGCP2     1-0862-003chr10:
135121113-135121113
GGTGCintronicDe 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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