Variant Results

or

Results for "TBC1D23"

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

TBC1D23

AU2950302

chr3:
100008143-100008143

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D23

13010.p1

chr3:
100015120-100015120

G

C

splicing

De novo

splicing

19.61

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

TBC1D23

SSC06608

chr3:
100015120-100015120

G

C

splicing

De novo

splicing

19.61

-

Fu2022 E
Lim2017 E
Trost2022 G

TBC1D23

1-0485-003

chr3:
100036216-100036216

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D23

2-0088-003

chr3:
100035665-100035665

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D23

AU3638302

chr3:
100046876-100046876

C

T

intergenic

De novo

-

Yuen2017 G

TBC1D23

mAGRE5343

chr3:
100018112-100018112

C

A

exonic

Maternal

stopgain

NM_001199198
NM_018309

c.C1029A
c.C1029A

p.C343X
p.C343X

35.0

1.648E-5

Cirnigliaro2023 G

TBC1D23

REACH000655

chr3:
100029500-100029500

G

C

intronic

De novo

-

Trost2022 G

TBC1D23

Uddin2014:36

chr3:
100015120-100015120

G

C

splicing

De novo

splicing

19.61

-

Uddin2014 E

TBC1D23

2-0162-003

chr3:
100035707-100035707

G

A

intronic

De novo

-

Trost2022 G

TBC1D23

MSSNG00417-003

chr3:
100004923-100004923

C

T

intronic

De novo

-

Trost2022 G

Source Variant Information

, -

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 notes	View
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