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Results for "DYNC1H1"

Variant Events: 27

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
DYNC1H1     7-0100-004chr14:
102489910-102489910
GTintronicDe novo--Yuen2017 G
DYNC1H1     Chen2017:59chr14:
102508760-102508760
GAexonicDe novostopgainNM_001376c.G12315Ap.W4105X55.0-Chen2017 E
DYNC1H1     Li2017:16223chr14:
102452925-102452925
AGexonicUnknownnonsynonymous SNVNM_001376c.A2363Gp.Y788C20.2-Li2017 T
DYNC1H1     2-1163-003chr14:
102460577-102460577
AGexonicDe novosynonymous SNVNM_001376c.A3072Gp.T1024T--Yuen2016 G
Yuen2017 G
DYNC1H1     Husson2020:222chr14:
102467871-102467871
GCsplicingsplicing17.95-Husson2020 E
DYNC1H1     08C78491chr14:
102460577-102460577
AGexonicDe novosynonymous SNVNM_001376c.A3072Gp.T1024T--Satterstrom2020 E
DYNC1H1     1-0862-003chr14:
102493980-102493980
GAexonicDe novononsynonymous SNVNM_001376c.G9073Ap.E3025K36.0-Yuen2017 G
DYNC1H1     200675496@1082035033chr14:
102508760-102508760
GAexonicDe novostopgainNM_001376c.G12315Ap.W4105X55.0-Satterstrom2020 E
DYNC1H1     P001chr14:
102466482-102466482
GAsplicingDe novosplicing21.8-Long2019 ET
DYNC1H1     1-0585-003chr14:
102487616-102487616
AGintronicDe novo--Yuen2017 G
DYNC1H1     1-0048-003chr14:
102457686-102457686
GAintronicDe novo--Yuen2017 G
DYNC1H1     11434.p1chr14:
102508461-102508461
GAexonicDe novononsynonymous SNVNM_001376c.G12214Ap.G4072S34.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DYNC1H1     Mahjani2021:59chr14:
102471145-102471145
AGexonicnonsynonymous SNVNM_001376c.A5096Gp.N1699S25.1-Mahjani2021 E
DYNC1H1     AU2000305chr14:
102490323-102490323
CTintronicDe novo--Yuen2017 G
DYNC1H1     13094.p1chr14:
102514235-102514235
ACexonicDe novononsynonymous SNVNM_001376c.A13088Cp.K4363T12.587.436E-5Satterstrom2020 E
DYNC1H1     Mahjani2021:55chr14:
102469160-102469160
ACexonicnonsynonymous SNVNM_001376c.A4741Cp.K1581Q32.0-Mahjani2021 E
DYNC1H1     Mahjani2021:62chr14:
102494428-102494428
CTexonicnonsynonymous SNVNM_001376c.C9418Tp.R3140W17.88-Mahjani2021 E
DYNC1H1     NDAR_INVLB835LVY_wes1chr14:
102453029-102453029
GTexonicDe novononsynonymous SNVNM_001376c.G2467Tp.V823L12.98-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DYNC1H1     Mahjani2021:64chr14:
102495928-102495928
GAexonicnonsynonymous SNVNM_001376c.G9521Ap.R3174H36.0-Mahjani2021 E
DYNC1H1     09C80249chr14:
102478291-102478291
CTexonicDe novononsynonymous SNVNM_001376c.C6698Tp.A2233V32.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DYNC1H1     DEASD_0251_001chr14:
102483206-102483206
AGexonicDe novononsynonymous SNVNM_001376c.A7718Gp.D2573G26.1-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DYNC1H1     NDAR_INVYH284TCH_wes1chr14:
102510723-102510723
ATexonicDe novononsynonymous SNVNM_001376c.A12797Tp.N4266I16.03-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DYNC1H1     SSC02973chr14:
102508461-102508461
GAexonicDe novononsynonymous SNVNM_001376c.G12214Ap.G4072S34.0-Lim2017 E
DYNC1H1     14015.p1chr14:
102446851-102446851
CTexonicDe novononsynonymous SNVNM_001376c.C925Tp.R309C26.5-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Turner2016 G
DYNC1H1     2-0129-004chr14:
102441775-102441775
GCintronicDe novo--Yuen2017 G
DYNC1H1     SSC10335chr14:
102446851-102446851
CTexonicDe novononsynonymous SNVNM_001376c.C925Tp.R309C26.5-Lim2017 E
DYNC1H1     AU024004chr14:
102531273-102531273
GCintergenicDe novo--Yuen2017 G
Source Variant Information

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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
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