Variant Results

or

Results for "TBC1D2"

Variant Events: 29

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

TBC1D2

2-0307-003

chr9:
101015202-101015204

CTG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D2

iHART1237

chr9:
100962534-100962534

C

T

splicing

Paternal

splicing

23.0

8.476E-6

Ruzzo2019 G

TBC1D2

iHART1424

chr9:
100963948-100963948

T

C

splicing

Paternal

splicing

19.29

-

Ruzzo2019 G

TBC1D2

SP0115367

chr9:
100961595-100961595

C

T

UTR3

De novo

-

Fu2022 E
Trost2022 G

TBC1D2

mAGRE1424

chr9:
100963948-100963948

T

C

splicing

Paternal

splicing

19.29

-

Cirnigliaro2023 G

TBC1D2

mAGRE1237

chr9:
100962534-100962534

C

T

splicing

Paternal

splicing

23.0

8.476E-6

Cirnigliaro2023 G

TBC1D2

2-1522-003

chr9:
101025993-101026004

ATACTCAGGGTT

AT

intergenic

De novo

-

Yuen2017 G

TBC1D2

7-0012-003

chr9:
101018423-101018423

C

T

upstream

De novo

-

Trost2022 G
Yuen2017 G

TBC1D2

2-1723-003

chr9:
101000388-101000388

G

A

intronic

De novo

-

Trost2022 G

TBC1D2

7-0100-003

chr9:
101000388-101000388

G

A

intronic

De novo

-

Trost2022 G

TBC1D2

1-1084-003

chr9:
100990439-100990440

GC

G

intronic

De novo

-

Trost2022 G

TBC1D2

1-0299-003

chr9:
100964452-100964452

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D2

1-1226-003

chr9:
100997315-100997315

G

A

intronic

De novo

-

Trost2022 G

TBC1D2

SP0164189

chr9:
100963856-100963856

C

T

exonic

De novo

nonsynonymous SNV

NM_001267572
NM_001267571
NM_018421

c.G982A
c.G2362A
c.G2362A

p.V328I
p.V788I
p.V788I

3.292

2.479E-5

Trost2022 G

TBC1D2

SP0177580

chr9:
100975409-100975409

T

C

exonic

De novo

nonsynonymous SNV

NM_001267572
NM_001267571
NM_018421

c.A86G
c.A1466G
c.A1466G

p.E29G
p.E489G
p.E489G

15.56

-

Trost2022 G

TBC1D2

1-0826-004

chr9:
100990859-100990859

C

CA

intronic

De novo

-

Yuen2017 G

TBC1D2

REACH000650

chr9:
101002896-101002896

G

A

intronic

De novo

-

Trost2022 G

TBC1D2

Wang2023:844

chr9:
100983217-100983217

C

G

exonic

De novo

nonsynonymous SNV

NM_001267571
NM_018421

c.G1272C
c.G1272C

p.K424N
p.K424N

18.09

-

Wang2023 E

TBC1D2

MSSNG00257-004

chr9:
101013830-101013830

T

C

intronic

De novo

-

Trost2022 G

TBC1D2

2-1723-003

chr9:
101000394-101000394

T

C

intronic

De novo

-

Trost2022 G

TBC1D2

1-0051-005

chr9:
101000394-101000394

T

C

intronic

De novo

-

Trost2022 G

TBC1D2

7-0100-003

chr9:
101000391-101000391

A

G

intronic

De novo

-

Trost2022 G

TBC1D2

1-0051-005

chr9:
101000391-101000391

A

G

intronic

De novo

-

Trost2022 G

TBC1D2

AU1764301

chr9:
100974668-100974668

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D2

1-0051-005

chr9:
101000388-101000388

G

A

intronic

De novo

-

Trost2022 G

TBC1D2

2-1723-003

chr9:
101000391-101000391

A

G

intronic

De novo

-

Trost2022 G

TBC1D2

SSC06772

chr9:
100962646-100962646

C

T

exonic

De novo

nonsynonymous SNV

NM_001267572
NM_001267571

c.G1088A
c.G2468A

p.R363H
p.R823H

27.5

2.31E-5

Fu2022 E
Lim2017 E

TBC1D2

12967.p1

chr9:
100962646-100962646

C

T

exonic

De novo

nonsynonymous SNV

NM_001267572
NM_001267571

c.G1088A
c.G2468A

p.R363H
p.R823H

27.5

2.31E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE

TBC1D2

SMHC00844d000

chr9:
100983217-100983217

C

G

exonic

De novo

nonsynonymous SNV

NM_001267571
NM_018421

c.G1272C
c.G1272C

p.K424N
p.K424N

18.09

-

Yuan2023 E

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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