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Results for "TBC1D32"

Variant Events: 10

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
TBC1D32     2-0306-004chr6:
121697689-121697696
TGGGGGGGTGGGGGGintergenicDe novo--Yuen2017 G
TBC1D32     3-0392-000chr6:
121597438-121597438
CAintronicDe novo--Yuen2016 G
TBC1D32     A30chr6:
121582828-121582828
GAintronicDe novo--Wu2018 G
TBC1D32     09C83077chr6:
121638649-121638649
AGexonicDe novosynonymous SNVNM_152730c.T487Cp.L163L--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
TBC1D32     2-1521-003chr6:
121673678-121673678
ATintergenicDe novo--Yuen2017 G
TBC1D32     80001103406chr6:
121562604-121562604
CTintronicDe novo--Satterstrom2020 E
TBC1D32     AU4410302chr6:
121439324-121439328
TGGAGTGintronicDe novo--Yuen2017 G
TBC1D32     2-0090-003chr6:
121479679-121479679
CGintronicDe novo--Yuen2017 G
TBC1D32     AU4027306chr6:
121684025-121684025
CGintergenicDe novo--Yuen2017 G
TBC1D32     12113.p1chr6:
121628650-121628660
AGAAAAATTTTAintronicDe novo--Werling2018 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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