Variant Results

or

Results for "DCTN1"

Variant Events: 17

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

DCTN1

iHART3046

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Ruzzo2019 G

DCTN1

Shi2013:1

chr2:
74597921-74597921

C

T

exonic

Inherited

nonsynonymous SNV

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.G473A
c.G473A
c.G815A
c.G764A
c.G854A
c.G875A

p.R158H
p.R158H
p.R272H
p.R255H
p.R285H
p.R292H

16.99

1.652E-5

Shi2013 G

DCTN1

iHART3047

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Ruzzo2019 G

DCTN1

AU005213

chr2:
74607189-74607189

T

A

UTR5

De novo

-

Yuen2017 G

DCTN1

iHART3044

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Ruzzo2019 G

DCTN1

11986.p1

chr2:
74597859-74597859

T

C

exonic

De novo

nonsynonymous SNV

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.A535G
c.A535G
c.A877G
c.A826G
c.A916G
c.A937G

p.M179V
p.M179V
p.M293V
p.M276V
p.M306V
p.M313V

23.0

-

Ji2016 E
Krumm2015 E
Krupp2017 E
Zhou2022 GE

DCTN1

CA134A1

chr2:
74597859-74597859

T

A

exonic

De novo

nonsynonymous SNV

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.A535T
c.A535T
c.A877T
c.A826T
c.A916T
c.A937T

p.M179L
p.M179L
p.M293L
p.M276L
p.M306L
p.M313L

29.3

-

Fu2022 E

DCTN1

11986_p1

chr2:
74597859-74597859

T

C

exonic

De novo

nonsynonymous SNV

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.A535G
c.A535G
c.A877G
c.A826G
c.A916G
c.A937G

p.M179V
p.M179V
p.M293V
p.M276V
p.M306V
p.M313V

23.0

-

Fu2022 E

DCTN1

mAGRE3047

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Cirnigliaro2023 G

DCTN1

mAGRE3046

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Cirnigliaro2023 G

DCTN1

mAGRE3044

chr2:
74603868-74603868

C

T

splicing

Paternal

splicing

23.2

4.276E-5

Cirnigliaro2023 G

DCTN1

SP0133780

chr2:
74601890-74601890

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

DCTN1

5-0074-003

chr2:
74596854-74596854

C

T

intronic

De novo

-

Yuen2017 G

DCTN1

Shi2013:2

chr2:
74597921-74597921

C

T

exonic

Inherited

nonsynonymous SNV

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.G473A
c.G473A
c.G815A
c.G764A
c.G854A
c.G875A

p.R158H
p.R158H
p.R272H
p.R255H
p.R285H
p.R292H

16.99

1.652E-5

Shi2013 G

DCTN1

SP0172015

chr2:
74598115-74598116

CT

C

exonic

De novo

frameshift deletion

NM_001135041
NM_023019
NM_001135040
NM_001190836
NM_001190837
NM_004082

c.431delA
c.431delA
c.773delA
c.722delA
c.812delA
c.833delA

p.E144fs
p.E144fs
p.E258fs
p.E241fs
p.E271fs
p.E278fs

-

Trost2022 G

DCTN1

REACH000336

chr2:
74608369-74608370

CA

C

intronic

De novo

-

Trost2022 G

DCTN1

1-0876-003A

chr2:
74596738-74596738

G

A

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
	More