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Results for "DYNC2H1"

Variant Events: 39

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
DYNC2H1     AU4015301chr11:
103677982-103677982
GAintergenicDe novo--Yuen2017 G
DYNC2H1     iHART1443chr11:
102992106-102992106
CTexonicPaternalstopgainNM_001080463
NM_001377
c.C1366T
c.C1366T
p.R456X
p.R456X
38.0-Ruzzo2019 G
DYNC2H1     2-1117-003chr11:
103185081-103185081
TGintronicDe novo--Yuen2016 G
Yuen2017 G
DYNC2H1     13455.p1chr11:
103026257-103026257
AGintronicDe novo--Satterstrom2020 E
DYNC2H1     DEASD_0292_001chr11:
103178533-103178533
AGexonicDe novosynonymous SNVNM_001377
NM_001080463
c.A11466G
c.A11487G
p.L3822L
p.L3829L
-4.792E-5Lim2017 E
DYNC2H1     SSC06657chr11:
103006497-103006497
AGexonicDe novosynonymous SNVNM_001080463
NM_001377
c.A2394G
c.A2394G
p.K798K
p.K798K
--Lim2017 E
DYNC2H1     2-1398-003chr11:
103306741-103306741
CTexonicDe novononsynonymous SNVNM_001377
NM_001080463
c.C12437T
c.C12458T
p.A4146V
p.A4153V
14.54-Yuen2017 G
DYNC2H1     2-0202-004chr11:
103588561-103588561
TCintergenicDe novo--Yuen2017 G
DYNC2H1     AU2950302chr11:
103694249-103694249
CTintergenicDe novo--Yuen2017 G
DYNC2H1     1-0173-004chr11:
103262624-103262624
AATintronicDe novo--Yuen2017 G
DYNC2H1     1-0465-003chr11:
103408621-103408621
TCintergenicDe novo--Yuen2017 G
DYNC2H1     MT_160chr11:
103175330-103175330
AGexonicMaternalnonsynonymous SNVNM_001377
NM_001080463
c.A11263G
c.A11284G
p.M3755V
p.M3762V
21.54.0E-4Toma2013 E
DYNC2H1     1-0385-003chr11:
103641688-103641688
GAintergenicDe novo--Yuen2017 G
DYNC2H1     1-0329-003chr11:
103155884-103155884
AGintronicDe novo--Yuen2017 G
DYNC2H1     AU3368303chr11:
102986141-102986141
TGintronicDe novo--Yuen2017 G
DYNC2H1     AU4145301chr11:
103296804-103296804
GAintronicDe novo--Yuen2017 G
DYNC2H1     2-0285-004chr11:
103473956-103473956
TAintergenicDe novo--Yuen2017 G
DYNC2H1     AU2793303chr11:
103585277-103585284
CCAACAACCCAACintergenicDe novo--Yuen2017 G
DYNC2H1     2-0244-003chr11:
103719250-103719250
CCACCAAAintergenicDe novo--Yuen2017 G
DYNC2H1     2-0295-003chr11:
103717880-103717880
AGintergenicDe novo--Yuen2017 G
DYNC2H1     AU3808304chr11:
103496959-103496959
CTintergenicDe novo--Yuen2017 G
DYNC2H1     AU2792301chr11:
103272720-103272720
GCintronicDe novo--Yuen2017 G
DYNC2H1     1-0912-003chr11:
103614613-103614613
AGintergenicDe novo--Yuen2017 G
DYNC2H1     12651.p1chr11:
103006497-103006497
AGexonicDe novosynonymous SNVNM_001080463
NM_001377
c.A2394G
c.A2394G
p.K798K
p.K798K
--Krumm2015 E
Satterstrom2020 E
DYNC2H1     5-0083-003chr11:
103594300-103594300
CTintergenicDe novo--Yuen2017 G
DYNC2H1     2-0003-003chr11:
103088961-103088961
AATGAAAACGintronicDe novo--Yuen2017 G
DYNC2H1     AU3874303chr11:
103165164-103165164
GCintronicDe novo--Yuen2017 G
DYNC2H1     1-0570-003chr11:
103339821-103339821
CGintronicDe novo--Yuen2017 G
DYNC2H1     1-0465-003achr11:
103408621-103408621
TCintergenicDe novo--Yuen2017 G
DYNC2H1     7-0143-003chr11:
103047583-103047583
CTintronicDe novo--Yuen2017 G
DYNC2H1     1-0756-004chr11:
103041675-103041675
GTexonicDe novononsynonymous SNVNM_001080463
NM_001377
c.G5212T
c.G5212T
p.G1738C
p.G1738C
24.2-Yuen2017 G
DYNC2H1     AU4033304chr11:
103549981-103549981
GAintergenicDe novo--Yuen2017 G
DYNC2H1     2-1292-003chr11:
103626816-103626816
AGintergenicDe novo--Yuen2017 G
DYNC2H1     2-0129-005chr11:
103133831-103133831
AGintronicDe novo--Yuen2017 G
DYNC2H1     AU2525302chr11:
103479027-103479027
CGintergenicDe novo--Yuen2017 G
DYNC2H1     11445.p1chr11:
103075511-103075511
ACintronicDe novo--Satterstrom2020 E
DYNC2H1     AU078503chr11:
103412874-103412874
TCintergenicDe novo--Yuen2017 G
DYNC2H1     1-0201-005chr11:
103161745-103161745
GAintronicDe novo--Yuen2017 G
DYNC2H1     2-1364-003chr11:
103107908-103107908
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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
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