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Results for "TBC1D31"

Variant Events: 12

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
TBC1D31     AU050910chr8:
124128760-124128760
GAintronicDe novo--Yuen2017 G
TBC1D31     iHART2831chr8:
124153087-124153089
CATCexonicMaternalframeshift deletionNM_001145088
NM_145647
c.2494_2495del
c.2587_2588del
p.M832fs
p.M863fs
-2.472E-5Ruzzo2019 G
TBC1D31     2-0320-003chr8:
124187440-124187440
GAintergenicDe novo--Yuen2017 G
TBC1D31     2-0149-004chr8:
124154917-124154918
GCGintronicDe novo--Yuen2017 G
TBC1D31     AU1988302chr8:
124164859-124164859
CTdownstreamDe novo--Yuen2017 G
TBC1D31     13975.p1chr8:
124140567-124140567
GCexonicMosaic, De novononsynonymous SNVNM_001145088
NM_145647
c.G1931C
c.G1931C
p.R644T
p.R644T
11.91-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
TBC1D31     13581.p1chr8:
124113166-124113166
TAexonicDe novononsynonymous SNVNM_001145088
NM_145647
c.T951A
c.T951A
p.H317Q
p.H317Q
14.69-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
TBC1D31     12153.p1chr8:
124142531-124142531
GAexonicMosaicsynonymous SNVNM_001145088
NM_145647
c.G2364A
c.G2364A
p.Q788Q
p.Q788Q
--Dou2017 E
Krupp2017 E
TBC1D31     3-0018-000chr8:
124181900-124181900
CAintergenicDe novo--Yuen2017 G
TBC1D31     SSC08167chr8:
124113166-124113166
TAexonicDe novononsynonymous SNVNM_001145088
NM_145647
c.T951A
c.T951A
p.H317Q
p.H317Q
14.69-Lim2017 E
TBC1D31     2-1352-003chr8:
124125171-124125171
GAintronicDe novo--Yuen2016 G
Yuen2017 G
TBC1D31     AU2458303chr8:
124186936-124186936
CTintergenicDe 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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