Variant Results

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Results for "TBC1D14"

Variant Events: 16

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

TBC1D14

1-0450-003

chr4:
6963194-6963194

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TBC1D14

2-1094-005

chr4:
7017760-7017760

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TBC1D14

7-0166-003

chr4:
6921979-6921979

G

T

intronic

De novo

-

-

Yuen2017 G

TBC1D14

1-0150-003

chr4:
6927519-6927519

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TBC1D14

MSSNG00036-003A

chr4:
6941786-6941786

G

A

intronic

De novo

-

-

Trost2022 G

TBC1D14

4-0046-004

chr4:
6953705-6953705

G

A

intronic

De novo

-

-

Trost2022 G

TBC1D14

21304-33563

chr4:
6925231-6925231

C

T

exonic

stopgain

NM_001113361
NM_020773

c.C115T
c.C115T

p.R39X
p.R39X

9.119

Callaghan2019 G

TBC1D14

SP0052168

chr4:
7026655-7026655

A

G

intronic

De novo

-

-

Fu2022 E

TBC1D14

5-5170-003

chr4:
6917516-6917516

G

A

intronic

De novo

-

-

Trost2022 G

TBC1D14

AU4159301

chr4:
6935710-6935710

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TBC1D14

3-0742-000

chr4:
7022945-7022945

C

T

intronic

De novo

-

-

Trost2022 G

TBC1D14

1-0333-003

chr4:
7003081-7003081

G

T

intronic

De novo

-

-

Trost2022 G

TBC1D14

AU055603

chr4:
7017634-7017634

G

A

intronic

De novo

-

-

Trost2022 G

TBC1D14

Wang2023:816

chr4:
7026948-7026948

G

T

exonic

De novo

nonsynonymous SNV

NM_001113363
NM_001286805
NM_001113361
NM_020773

c.G1135T
c.G955T
c.G1975T
c.G1975T

p.A379S
p.A319S
p.A659S
p.A659S

9.471

-

Wang2023 E

TBC1D14

5-5006-003

chr4:
6984810-6984810

C

T

intronic

De novo

-

-

Trost2022 G

TBC1D14

REACH000724

chr4:
6993860-6993862

CAG

C

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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