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Results for "DNAH9"

Variant Events: 29

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
DNAH9     AU2950301chr17:
11558018-11558018
GCintronicDe novo--Yuen2017 G
DNAH9     1-0715-003chr17:
11682971-11682978
GTCTTTCTGTCTintronicDe novo--Yuen2017 G
DNAH9     AU3605304chr17:
11710640-11710640
ATintronicDe novo--Yuen2017 G
DNAH9     3-0432-000chr17:
11538088-11538088
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH9     3-0134-000chr17:
11790666-11790666
GTintronicDe novo--Yuen2017 G
DNAH9     AU4260303chr17:
11512709-11512709
AGintronicDe novo--Yuen2017 G
DNAH9     AU4013301chr17:
11776526-11776526
TCintronicDe novo--Yuen2017 G
DNAH9     2-1330-003chr17:
11534286-11534286
CTintronicDe novo--Yuen2017 G
DNAH9     12235.p1chr17:
11790177-11790177
CTexonicDe novosynonymous SNVNM_001372c.C11007Tp.N3669N-9.091E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH9     12383.p1chr17:
11806196-11806196
CTexonicDe novononsynonymous SNVNM_004662
NM_001372
c.C503T
c.C11567T
p.A168V
p.A3856V
15.47-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DNAH9     08C73987chr17:
11696790-11696790
GAintronicDe novo-1.0E-4Satterstrom2020 E
DNAH9     AU2023302chr17:
11596045-11596047
AGGAGintronicDe novo--Yuen2017 G
DNAH9     13444.p1chr17:
11526716-11526717
TGTintronicUnknown--Werling2018 G
DNAH9     1-0248-003chr17:
11515169-11515172
CTGTCTintronicDe novo--Yuen2017 G
DNAH9     2-1428-003chr17:
11673513-11673513
GAintronicDe novo--Yuen2017 G
DNAH9     1-0871-003chr17:
11623673-11623673
AGintronicDe novo--Yuen2017 G
DNAH9     AU003405chr17:
11782270-11782270
AGintronicDe novo--Yuen2017 G
DNAH9     Cukier2014:7590chr17:
11840819-11840819
GTexonicUnknownnonsynonymous SNVNM_004662
NM_001372
c.G1576T
c.G12640T
p.G526C
p.G4214C
16.990.0024Cukier2014 E
DNAH9     1-0568-003chr17:
11708573-11708578
TCAAACTintronicDe novo--Yuen2017 G
DNAH9     AU3646301chr17:
11738641-11738641
CTintronicDe novo--Yuen2017 G
DNAH9     2-1402-003chr17:
11841346-11841346
TCintronicDe novo--Yuen2017 G
DNAH9     iHART3003chr17:
11631241-11631241
TGsplicingMaternalsplicing19.43-Ruzzo2019 G
DNAH9     200675257@1082034415chr17:
11572851-11572851
CTexonicDe novosynonymous SNVNM_001372c.C3093Tp.Y1031Y-2.471E-5Satterstrom2020 E
DNAH9     3-0431-000chr17:
11875748-11875748
TCintergenicDe novo--Yuen2017 G
DNAH9     iHART2429chr17:
11784550-11784552
ATGAexonicPaternalframeshift deletionNM_001372c.10627_10628delp.C3543fs--Ruzzo2019 G
DNAH9     iHART2431chr17:
11784550-11784552
ATGAexonicPaternalframeshift deletionNM_001372c.10627_10628delp.C3543fs--Ruzzo2019 G
DNAH9     SSC04464chr17:
11806196-11806196
CTexonicMosaicnonsynonymous SNVNM_004662
NM_001372
c.C503T
c.C11567T
p.A168V
p.A3856V
15.47-Lim2017 E
DNAH9     AU2333302chr17:
11729646-11729646
TCintronicDe novo--Yuen2017 G
DNAH9     iHART2430chr17:
11784550-11784552
ATGAexonicPaternalframeshift deletionNM_001372c.10627_10628delp.C3543fs--Ruzzo2019 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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