Variant Results

or

Results for "TBC1D1"

Variant Events: 64

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

4-0054-003

chr4:
37976777-37976777

T

C

intronic

De novo

-

Trost2022 G

TBC1D1

1-0296-004

chr4:
37992775-37992785

TACAGAGGTAA

C

intronic

De novo

-

Trost2022 G

TBC1D1

14315.p1

chr4:
38051327-38051327

C

T

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.C1718T
c.C1718T

p.S573L
p.S573L

10.92

1.649E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

TBC1D1

2-1493-003

chr4:
37952121-37952122

CA

TT

intronic

De novo

-

Trost2022 G

TBC1D1

2-1577-003

chr4:
38386276-38386276

A

G

intergenic

De novo

-

Yuen2017 G

TBC1D1

4-0054-003

chr4:
37976774-37976774

G

T

intronic

De novo

-

Trost2022 G

TBC1D1

5-0020-003

chr4:
37950417-37950417

C

T

intronic

De novo

-

Trost2022 G

TBC1D1

2-1290-003

chr4:
37999413-37999413

A

T

intronic

De novo

-

Yuen2017 G

TBC1D1

iHART2648

chr4:
38119803-38119805

CAG

C

exonic

Maternal

frameshift deletion

NM_001253913
NM_001253914
NM_015173

c.244_245del
c.244_245del
c.2953_2954del

p.R82fs
p.R82fs
p.R985fs

-

Ruzzo2019 G

TBC1D1

5-5170-003

chr4:
37950618-37950618

G

A

intronic

De novo

-

Trost2022 G

TBC1D1

1-0068-003

chr4:
38281299-38281299

C

T

intergenic

De novo

-

Yuen2017 G

TBC1D1

3-0416-000

chr4:
37931540-37931540

G

C

intronic

De novo

-

Trost2022 G

TBC1D1

4-0014-003

chr4:
37943894-37943894

T

G

intronic

De novo

-

Trost2022 G

TBC1D1

2-1485-004

chr4:
38050964-38050964

G

A

intronic

De novo

-

Yuen2017 G

TBC1D1

SP0246718

chr4:
38051462-38051462

C

T

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.C1853T
c.C1853T

p.S618L
p.S618L

6.584

-

Trost2022 G

TBC1D1

MT_25.3

chr4:
38055466-38055466

A

G

intronic

De novo

-

Trost2022 G

TBC1D1

1-1182-003

chr4:
38030033-38030033

C

A

intronic

De novo

-

Trost2022 G

TBC1D1

SSC11525

chr4:
38051327-38051327

C

T

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.C1718T
c.C1718T

p.S573L
p.S573L

10.92

1.649E-5

Trost2022 G

TBC1D1

AU2988302

chr4:
38233665-38233665

G

A

intergenic

De novo

-

Yuen2017 G

TBC1D1

14-613

chr4:
38021301-38021301

C

T

intronic

De novo

-

Trost2022 G

TBC1D1

SP0199323

chr4:
38022193-38022193

C

T

intronic

De novo

-

1.648E-5

Trost2022 G

TBC1D1

5-0050-003

chr4:
37994306-37994306

G

A

intronic

De novo

-

Trost2022 G

TBC1D1

1-0286-004

chr4:
37999940-37999940

C

TGCCA

intronic

De novo

-

Trost2022 G

TBC1D1

SP0093070

chr4:
38023221-38023221

G

C

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.G1092C
c.G1092C

p.M364I
p.M364I

29.7

6.967E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TBC1D1

MSSNG00061-003

chr4:
38095231-38095231

C

T

intronic

De novo

-

Trost2022 G

TBC1D1

7-0130-003

chr4:
38116382-38116389

GGATGTTG

CAATA

intronic

De novo

-

Trost2022 G

TBC1D1

SP0082075

chr4:
38029472-38029472

A

G

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.A1274G
c.A1274G

p.E425G
p.E425G

24.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TBC1D1

MSSNG00034-003

chr4:
38058072-38058072

A

T

intronic

De novo

-

Trost2022 G

TBC1D1

MT_160.3

chr4:
38068862-38068863

AT

A

intronic

De novo

-

Trost2022 G

TBC1D1

Wang2023:413

chr4:
37904080-37904080

G

A

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.G364A
c.G364A

p.A122T
p.A122T

0.014

-

Wang2023 E

TBC1D1

2-0182-003

chr4:
38005356-38005356

G

A

intronic

De novo

-

Yuen2017 G

TBC1D1

2-1356-003

chr4:
38084428-38084428

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TBC1D1

AU4168306

chr4:
37936104-37936104

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

5-0105-003

chr4:
38033365-38033365

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

1-0436-003

chr4:
38063430-38063430

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TBC1D1

7-0119-003

chr4:
38332612-38332612

A

G

intergenic

De novo

-

Yuen2017 G

TBC1D1

2-1132-003

chr4:
38192278-38192278

T

G

intergenic

De novo

-

Yuen2017 G

TBC1D1

mAGRE2648

chr4:
38119803-38119805

CAG

C

exonic

Maternal

frameshift deletion

NM_001253913
NM_001253914
NM_015173

c.244_245del
c.244_245del
c.2953_2954del

p.R82fs
p.R82fs
p.R985fs

-

Cirnigliaro2023 G

TBC1D1

1-0121-003

chr4:
38377276-38377276

C

T

intergenic

De novo

-

Yuen2017 G

TBC1D1

2-1485-003

chr4:
38050964-38050964

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

AU1725306

chr4:
38035729-38035729

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

AU4315302

chr4:
38027251-38027251

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

2-1322-003

chr4:
38155590-38155590

G

GT

intergenic

De novo

-

Yuen2017 G

TBC1D1

SSC04105

chr4:
38016414-38016414

G

T

exonic

De novo

nonsynonymous SNV

NM_001253912
NM_015173

c.G702T
c.G702T

p.K234N
p.K234N

14.87

-

Fu2022 E

TBC1D1

AU1542301

chr4:
38108158-38108158

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

AU1860302

chr4:
38130301-38130301

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

14482.p1

chr4:
38334829-38334829

A

G

intergenic

De novo

-

Turner2016 G

TBC1D1

13324.p1

chr4:
38385963-38385963

G

A

intergenic

De novo

-

Turner2016 G

TBC1D1

AU3053302

chr4:
38375753-38375753

C

T

intergenic

De novo

-

Yuen2017 G

TBC1D1

2-1718-003

chr4:
38110406-38110406

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

AU1987304

chr4:
38297751-38297751

A

G

intergenic

De novo

-

Yuen2017 G

TBC1D1

AU2988303

chr4:
38233665-38233665

G

A

intergenic

De novo

-

Yuen2017 G

TBC1D1

74-0265

chr4:
37901376-37901376

A

G

intronic

De novo

-

Michaelson2012 G

TBC1D1

AU3768302

chr4:
37916438-37916438

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

MSSNG00443-003

chr4:
38117448-38117448

G

C

exonic

De novo

nonsynonymous SNV

NM_015173
NM_001253912

c.G2675C
c.G2957C

p.G892A
p.G986A

27.1

-

Trost2022 G
Zhou2022 GE

TBC1D1

1-0473-003

chr4:
38207986-38207986

T

C

intergenic

De novo

-

Yuen2017 G

TBC1D1

1-1000-003

chr4:
37922760-37922760

G

GAAAGTAC

intronic

De novo

-

Yuen2017 G

TBC1D1

5-0040-003

chr4:
38041463-38041463

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

1-0218-004

chr4:
38109788-38109788

T

TGGGGC

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D1

2-1336-003

chr4:
38309632-38309648

CAAAATGAGCGAAGATG

C

intergenic

De novo

-

Yuen2017 G

TBC1D1

3-0336-000

chr4:
37900355-37900355

G

A

intronic

De novo

-

Trost2022 G

TBC1D1

7-0464-003

chr4:
37905605-37905605

G

T

intronic

De novo

-

Trost2022 G

TBC1D1

AU031403

chr4:
38103663-38103663

A

G

intronic

De novo

-

Yuen2017 G

TBC1D1

1-0541-003

chr4:
38338637-38338637

G

C

intergenic

De novo

-

Yuen2017 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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