or
or
Exact

Results for "DCTN1"

Variant Events: 8

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     iHART3046chr2:
74603868-74603868
CTsplicingPaternalsplicing23.24.276E-5Ruzzo2019 G
DCTN1     Shi2013:1chr2:
74597921-74597921
CTexonicInheritednonsynonymous SNVNM_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
16.991.652E-5Shi2013 G
DCTN1     iHART3047chr2:
74603868-74603868
CTsplicingPaternalsplicing23.24.276E-5Ruzzo2019 G
DCTN1     AU005213chr2:
74607189-74607189
TAUTR5De novo--Yuen2017 G
DCTN1     iHART3044chr2:
74603868-74603868
CTsplicingPaternalsplicing23.24.276E-5Ruzzo2019 G
DCTN1     5-0074-003chr2:
74596854-74596854
CTintronicDe novo--Yuen2017 G
DCTN1     11986.p1chr2:
74597859-74597859
TCexonicDe novononsynonymous SNVNM_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
DCTN1     Shi2013:2chr2:
74597921-74597921
CTexonicInheritednonsynonymous SNVNM_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
16.991.652E-5Shi2013 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 notesView
More