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Results for "TBC1D1"

Variant Events: 36

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
TBC1D1     14315.p1chr4:
38051327-38051327
CTexonicDe novononsynonymous SNVNM_001253912
NM_015173
c.C1718T
c.C1718T
p.S573L
p.S573L
10.921.649E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
TBC1D1     AU1725306chr4:
38035729-38035729
GAintronicDe novo--Yuen2017 G
TBC1D1     2-1577-003chr4:
38386276-38386276
AGintergenicDe novo--Yuen2017 G
TBC1D1     AU4315302chr4:
38027251-38027251
CTintronicDe novo--Yuen2017 G
TBC1D1     2-1290-003chr4:
37999413-37999413
ATintronicDe novo--Yuen2017 G
TBC1D1     2-1322-003chr4:
38155590-38155590
GGTintergenicDe novo--Yuen2017 G
TBC1D1     iHART2648chr4:
38119803-38119805
CAGCexonicMaternalframeshift deletionNM_001253913
NM_001253914
NM_015173
c.244_245del
c.244_245del
c.2953_2954del
p.R82fs
p.R82fs
p.R985fs
--Ruzzo2019 G
TBC1D1     1-0068-003chr4:
38281299-38281299
CTintergenicDe novo--Yuen2017 G
TBC1D1     2-1485-004chr4:
38050964-38050964
GAintronicDe novo--Yuen2017 G
TBC1D1     AU1542301chr4:
38108158-38108158
TCintronicDe novo--Yuen2017 G
TBC1D1     AU1860302chr4:
38130301-38130301
TCintronicDe novo--Yuen2017 G
TBC1D1     14482.p1chr4:
38334829-38334829
AGintergenicDe novo--Turner2016 G
TBC1D1     AU2988302chr4:
38233665-38233665
GAintergenicDe novo--Yuen2017 G
TBC1D1     13324.p1chr4:
38385963-38385963
GAintergenicDe novo--Turner2016 G
TBC1D1     AU3053302chr4:
38375753-38375753
CTintergenicDe novo--Yuen2017 G
TBC1D1     2-1718-003chr4:
38110406-38110406
CTintronicDe novo--Yuen2017 G
TBC1D1     AU1987304chr4:
38297751-38297751
AGintergenicDe novo--Yuen2017 G
TBC1D1     AU2988303chr4:
38233665-38233665
GAintergenicDe novo--Yuen2017 G
TBC1D1     74-0265chr4:
37901376-37901376
AGintronicDe novo--Michaelson2012 G
TBC1D1     AU3768302chr4:
37916438-37916438
GTintronicDe novo--Yuen2017 G
TBC1D1     1-0473-003chr4:
38207986-38207986
TCintergenicDe novo--Yuen2017 G
TBC1D1     2-0182-003chr4:
38005356-38005356
GAintronicDe novo--Yuen2017 G
TBC1D1     2-1356-003chr4:
38084428-38084428
CAintronicDe novo--Yuen2016 G
Yuen2017 G
TBC1D1     1-1000-003chr4:
37922760-37922760
GGAAAGTACintronicDe novo--Yuen2017 G
TBC1D1     5-0040-003chr4:
38041463-38041463
GAintronicDe novo--Yuen2017 G
TBC1D1     1-0218-004chr4:
38109788-38109788
TTGGGGCintronicDe novo--Yuen2017 G
TBC1D1     AU4168306chr4:
37936104-37936104
TGintronicDe novo--Yuen2017 G
TBC1D1     5-0105-003chr4:
38033365-38033365
CTintronicDe novo--Yuen2017 G
TBC1D1     1-0436-003chr4:
38063430-38063430
AGintronicDe novo--Yuen2016 G
Yuen2017 G
TBC1D1     7-0119-003chr4:
38332612-38332612
AGintergenicDe novo--Yuen2017 G
TBC1D1     2-1132-003chr4:
38192278-38192278
TGintergenicDe novo--Yuen2017 G
TBC1D1     2-1336-003chr4:
38309632-38309648
CAAAATGAGCGAAGATGCintergenicDe novo--Yuen2017 G
TBC1D1     1-0121-003chr4:
38377276-38377276
CTintergenicDe novo--Yuen2017 G
TBC1D1     2-1485-003chr4:
38050964-38050964
GAintronicDe novo--Yuen2017 G
TBC1D1     AU031403chr4:
38103663-38103663
AGintronicDe novo--Yuen2017 G
TBC1D1     1-0541-003chr4:
38338637-38338637
GCintergenicDe 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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