Variant Results

or

Results for "TUBGCP4"

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

TUBGCP4

13537.p1

Complex Event; expand row to view variants

De novo

splicing

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

TUBGCP4

SSC08937

chr15:
43692324-43692324

C

T

exonic

De novo

nonsynonymous SNV

NM_001286414
NM_014444

c.C1504T
c.C1501T

p.R502C
p.R501C

16.61

-

Fu2022 E
Lim2017 E

TUBGCP4

SSC08711

chr15:
43694048-43694052

TGTAA

T

splicing

De novo

splicing

-

Fu2022 E
Trost2022 G

TUBGCP4

2-0006-003

chr15:
43676037-43676037

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TUBGCP4

AU3885304

chr15:
43680648-43680648

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TUBGCP4

MSSNG00411-003

chr15:
43693110-43693110

C

T

intronic

De novo

-

Trost2022 G

TUBGCP4

SP0035755

chr15:
43668361-43668361

C

T

exonic

synonymous SNV

NM_001286414
NM_014444

c.C144T
c.C144T

p.L48L
p.L48L

-

1.656E-5

Zhou2022 GE

TUBGCP4

SP0005740

chr15:
43696780-43696780

A

C

intronic

De novo

-

Fu2022 E

TUBGCP4

SP0152949

chr15:
43691297-43691297

T

C

intronic

De novo

-

Trost2022 G

TUBGCP4

AU3905302

chr15:
43678156-43678156

T

C

splicing

Paternal

splicing

23.1

-

Cirnigliaro2023 G

TUBGCP4

13651.p1

chr15:
43692324-43692324

C

T

exonic

De novo

nonsynonymous SNV

NM_001286414
NM_014444

c.C1504T
c.C1501T

p.R502C
p.R501C

16.61

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Wilfert2021 G
Zhou2022 GE

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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