or
or
Exact

Results for "DCDC2"

Variant Events: 12

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
DCDC2     12011.p1chr6:
24276159-24276159
AGintronicDe novo--Turner2016 G
DCDC2     AU3646301chr6:
24285437-24285437
GAintronicDe novo--Yuen2017 G
DCDC2     72-1397chr6:
24178621-24178621
ATexonicInheritednonsynonymous SNVNM_016356
NM_001195610
c.T1263A
c.T1263A
p.N421K
p.N421K
12.583.295E-5Patowary2019 E
DCDC2     2-0043-003chr6:
24296109-24296109
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DCDC2     1-0112-004chr6:
24352056-24352056
GAintronicDe novo--Yuen2017 G
DCDC2     EGAN00001101334chr6:
24178760-24178760
TAexonicDe novononsynonymous SNVNM_016356
NM_001195610
c.A1124T
c.A1124T
p.E375V
p.E375V
14.9-Satterstrom2020 E
DCDC2     2-1254-003chr6:
24337860-24337860
ACintronicDe novo--Yuen2016 G
DCDC2     7-0253-003chr6:
24326583-24326590
ACCCCCCCACCCCCCCCintronicDe novo--Yuen2017 G
DCDC2     AU1308303chr6:
24183750-24183750
GAintronicDe novo--Yuen2017 G
DCDC2     AU065807chr6:
24373437-24373437
AGintronicDe novo--Yuen2017 G
DCDC2     2-1441-003chr6:
24201659-24201659
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DCDC2     2-1425-003chr6:
24209303-24209303
CAintronicDe novo--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 notesView
More