Variant Results

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or

Results for "TACC1"

Variant Events: 24

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

TACC1

3-0752-000

chr8:
38660496-38660496

G

A

intronic

De novo

-

-

Trost2022 G

TACC1

SJD_49.4

chr8:
38683544-38683544

A

C

intronic

De novo

-

-

Trost2022 G

TACC1

4-0054-003

chr8:
38640433-38640436

TCAA

T

intronic

De novo

-

-

Trost2022 G

TACC1

AU3955303

chr8:
38649300-38649300

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TACC1

70468

chr8:
38645085-38645085

C

G

UTR5

De novo

-

-

Trost2022 G

TACC1

SMHC90003s000

chr8:
38704237-38704237

A

G

exonic

De novo

nonsynonymous SNV

NM_001122824
NM_001146216
NM_006283

c.A1019G
c.A1664G
c.A2249G

p.Q340R
p.Q555R
p.Q750R

17.96

Yuan2023 E

TACC1

AU2764301

chr8:
38600221-38600221

T

G

intronic

De novo

-

-

Trost2022 G

TACC1

1-1180-003

chr8:
38608577-38608577

A

G

intronic

De novo

-

-

Trost2022 G

TACC1

MT_25.3

chr8:
38594510-38594510

G

A

intronic

De novo

-

-

Trost2022 G

TACC1

1-0551-004

chr8:
38599644-38599644

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TACC1

Lim2017:70468

chr8:
38645085-38645085

C

G

UTR5

De novo

-

-

Lim2017 E

TACC1

2-1336-003

chr8:
38705481-38705481

A

T

exonic

De novo

nonsynonymous SNV

NM_001122824
NM_001146216
NM_006283

c.A1128T
c.A1773T
c.A2358T

p.E376D
p.E591D
p.E786D

21.8

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

TACC1

mAGRE3069

chr8:
38677676-38677678

CAG

C

exonic

Paternal

frameshift deletion

NM_001146216
NM_006283

c.330_331del
c.915_916del

p.S110fs
p.S305fs

-

Cirnigliaro2023 G

TACC1

A8

chr8:
38693907-38693907

T

C

intronic

De novo

-

-

Wu2018 G

TACC1

CA_103_A

chr8:
38684894-38684894

G

T

splicing

De novo

splicing

21.2

-

Fu2022 E

TACC1

1-0745-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

TACC1

iHART3069

chr8:
38677676-38677678

CAG

C

exonic

Paternal

frameshift deletion

NM_001146216
NM_006283

c.330_331del
c.915_916del

p.S110fs
p.S305fs

-

Ruzzo2019 G

TACC1

AU4159301

chr8:
38713247-38713256

TAGAACAGAA

TAGAA

intergenic

De novo

-

-

Yuen2017 G

TACC1

2-1195-003

chr8:
38615003-38615003

C

T

intronic

De novo

-

-

Yuen2016 G

TACC1

1-0193-003

chr8:
38692984-38692984

T

C

intronic

De novo

-

-

Yuen2017 G

TACC1

AU062204

chr8:
38678903-38678903

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

TACC1

1-0142-005

chr8:
38634011-38634011

C

CAT

intronic

De novo

-

-

Yuen2017 G

TACC1

14069.p1

chr8:
38645085-38645085

C

G

UTR5

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

TACC1

AU4250301

chr8:
38698762-38698762

T

A

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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