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Results for "TBC1D2B"

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
TBC1D2B     Cukier2014:17302chr15:
78337303-78337303
CTexonicUnknownnonsynonymous SNVNM_015079
NM_144572
c.G622A
c.G622A
p.A208T
p.A208T
15.80.0683Cukier2014 E
TBC1D2B     5-0017-003chr15:
78294150-78294150
AAGintronicDe novo--Yuen2017 G
TBC1D2B     13393.p1chr15:
78312248-78312248
GCintronicDe novo--Turner2016 G
TBC1D2B     AU4423303chr15:
78352285-78352287
GCCGCintronicDe novo--Yuen2017 G
TBC1D2B     AU4359301chr15:
78333697-78333697
GAintronicDe novo--Yuen2017 G
TBC1D2B     2-1409-003chr15:
78331747-78331747
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TBC1D2B     2-1440-003chr15:
78361531-78361531
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TBC1D2B     12836.p1chr15:
78317734-78317734
CGexonicDe novononsynonymous SNVNM_015079
NM_144572
c.G953C
c.G953C
p.G318A
p.G318A
4.539-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
TBC1D2B     Cukier2014:17122chr15:
78337303-78337303
CTexonicUnknownnonsynonymous SNVNM_015079
NM_144572
c.G622A
c.G622A
p.A208T
p.A208T
15.80.0683Cukier2014 E
TBC1D2B     UK10K_SKUSE5080205chr15:
78305283-78305283
GAexonicDe novosynonymous SNVNM_015079
NM_144572
c.C2152T
c.C2152T
p.L718L
p.L718L
--Lim2017 E
TBC1D2B     SSC06173chr15:
78317734-78317734
CGexonicDe novononsynonymous SNVNM_015079
NM_144572
c.G953C
c.G953C
p.G318A
p.G318A
4.539-Lim2017 E
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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