Variant Results

or

Results for "TBC1D15"

Variant Events: 23

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

TBC1D15

4-0008-003

chr12:
72242064-72242064

G

T

intronic

De novo

-

Trost2022 G

TBC1D15

1-0344-003

chr12:
72304642-72304642

A

G

intronic

De novo

-

Yuen2017 G

TBC1D15

3-0066-001

chr12:
72281396-72281396

C

T

intronic

De novo

-

Trost2022 G

TBC1D15

7-0273-003

chr12:
72288748-72288748

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D15

iHART2748

chr12:
72314618-72314620

AAT

A

exonic

Paternal

frameshift deletion

NM_001146213
NM_001146214
NM_022771

c.1708_1709del
c.1732_1733del
c.1759_1760del

p.I570fs
p.I578fs
p.I587fs

-

8.246E-6

Ruzzo2019 G

TBC1D15

iHART2747

chr12:
72314618-72314620

AAT

A

exonic

Paternal

frameshift deletion

NM_001146213
NM_001146214
NM_022771

c.1708_1709del
c.1732_1733del
c.1759_1760del

p.I570fs
p.I578fs
p.I587fs

-

8.246E-6

Ruzzo2019 G

TBC1D15

1-0354-006

chr12:
72330985-72330985

T

G

intergenic

De novo

-

Yuen2017 G

TBC1D15

2-1107-003

chr12:
72320598-72320598

C

A

UTR3

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TBC1D15

1-0090-003

chr12:
72304373-72304373

G

GGTCCCCTGTAAGAGAATAAA

intronic

De novo

-

Trost2022 G

TBC1D15

mAGRE2748

chr12:
72314618-72314620

AAT

A

exonic

Paternal

frameshift deletion

NM_001146213
NM_001146214
NM_022771

c.1708_1709del
c.1732_1733del
c.1759_1760del

p.I570fs
p.I578fs
p.I587fs

-

8.246E-6

Cirnigliaro2023 G

TBC1D15

mAGRE2747

chr12:
72314618-72314620

AAT

A

exonic

Paternal

frameshift deletion

NM_001146213
NM_001146214
NM_022771

c.1708_1709del
c.1732_1733del
c.1759_1760del

p.I570fs
p.I578fs
p.I587fs

-

8.246E-6

Cirnigliaro2023 G

TBC1D15

7-0191-003

chr12:
72315817-72315817

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D15

MT_86.3

chr12:
72291132-72291132

G

A

intronic

De novo

-

Trost2022 G

TBC1D15

mAGRE1205

chr12:
72274290-72274292

AAG

A

exonic

Maternal

frameshift deletion

NM_001146213
NM_022771
NM_001146214

c.247_248del
c.247_248del
c.271_272del

p.R83fs
p.R83fs
p.R91fs

-

1.17E-5

Cirnigliaro2023 G

TBC1D15

1-0090-003

chr12:
72304369-72304371

GTT

G

intronic

De novo

-

Trost2022 G

TBC1D15

5-0040-003

chr12:
72257382-72257382

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D15

133339

chr12:
72265944-72265944

A

G

exonic

nonsynonymous SNV

NM_001146213
NM_022771
NM_001146214

c.A125G
c.A125G
c.A149G

p.E42G
p.E42G
p.E50G

22.8

8.356E-6

Woodbury-Smith2022 E

TBC1D15

SP0019180

chr12:
72265899-72265899

C

T

exonic

De novo

nonsynonymous SNV

NM_001146213
NM_022771
NM_001146214

c.C80T
c.C80T
c.C104T

p.T27I
p.T27I
p.T35I

8.781

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TBC1D15

1-0112-004

chr12:
72304647-72304647

C

T

intronic

De novo

-

Yuen2017 G

TBC1D15

AU024004

chr12:
72272418-72272418

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TBC1D15

iHART1205

chr12:
72274290-72274292

AAG

A

exonic

Maternal

frameshift deletion

NM_001146213
NM_022771
NM_001146214

c.247_248del
c.247_248del
c.271_272del

p.R83fs
p.R83fs
p.R91fs

-

1.17E-5

Ruzzo2019 G

TBC1D15

AU3846303

chr12:
72307528-72307536

ATGGTGGTG

ATGGTG

intronic

De novo

-

Yuen2017 G

TBC1D15

1-0593-003

chr12:
72251182-72251182

A

T

intronic

De novo

-

Trost2022 G
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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