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Results for "DNAH1"

Variant Events: 23

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
DNAH1     09C89133chr3:
52356651-52356651
CTexonicDe novononsynonymous SNVNM_015512c.C193Tp.P65S3.1128.319E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH1     2-1085-003chr3:
52352669-52352669
CTintronicDe novo--Yuen2017 G
DNAH1     DEASD_0174_001chr3:
52409336-52409336
CTexonicDe novononsynonymous SNVNM_015512c.C7066Tp.R2356W13.979.703E-6DeRubeis2014 E
Kosmicki2017 E
DNAH1     AU4237302chr3:
52359271-52359271
CGintronicDe novo--Yuen2017 G
DNAH1     2-1529-003chr3:
52374001-52374001
TCintronicDe novo--Yuen2017 G
DNAH1     MT_69chr3:
52425336-52425336
CGexonicPaternalnonsynonymous SNVNM_015512c.C9883Gp.L3295V14.3-Toma2013 E
DNAH1     AU075803chr3:
52409746-52409746
AGintronicDe novo--Yuen2017 G
DNAH1     09C96264chr3:
52360716-52360716
AGintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DNAH1     1-0104-003chr3:
52374663-52374663
CAintronicDe novo--Yuen2017 G
DNAH1     AU2139301chr3:
52389422-52389422
GAintronicDe novo--Yuen2017 G
DNAH1     2-1306-003chr3:
52392694-52392694
CTexonicDe novononsynonymous SNVNM_015512c.C4207Tp.R1403C13.718.403E-6Yuen2017 G
DNAH1     003-05-102508chr3:
52406087-52406087
CTexonicDe novosynonymous SNVNM_015512c.C6651Tp.L2217L-8.332E-6Satterstrom2020 E
DNAH1     12610.p1chr3:
52391980-52391980
GTexonicDe novosynonymous SNVNM_015512c.G4047Tp.V1349V--Krumm2015 E
DNAH1     2-1306-004chr3:
52392694-52392694
CTexonicDe novononsynonymous SNVNM_015512c.C4207Tp.R1403C13.718.403E-6Yuen2017 G
DNAH1     11401.p1chr3:
52410008-52410008
GCexonicMosaic Mat.synonymous SNVNM_015512c.G7197Cp.V2399V-0.004Dou2017 E
DNAH1     AU3586303chr3:
52378078-52378078
AGintronicDe novo--Yuen2017 G
DNAH1     AU3729303chr3:
52403612-52403612
CTintronicDe novo--Yuen2017 G
DNAH1     iHART2234chr3:
52414065-52414075
TGCCCCTTCCATexonicPaternalframeshift deletionNM_015512c.7523_7532delp.C2508fs-1.842E-5Ruzzo2019 G
DNAH1     AU4231301chr3:
52406055-52406055
GAexonicDe novononsynonymous SNVNM_015512c.G6619Ap.V2207M12.438.31E-6Yuen2017 G
DNAH1     2-0307-004chr3:
52428877-52428877
ATintronicDe novo--Yuen2017 G
DNAH1     SP0043178chr3:
52427483-52427483
CTexonicDe novosynonymous SNVNM_015512c.C10608Tp.N3536N-5.808E-5Feliciano2019 E
DNAH1     1-0032-003chr3:
52374644-52374644
CTintronicDe novo--Yuen2017 G
DNAH1     AU4054302chr3:
52370167-52370167
TCintronicDe 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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