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Results for "DNAH2"

Variant Events: 21

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
DNAH2     5-0050-004chr17:
7633902-7633902
CTintronicDe novo--Yuen2017 G
DNAH2     iHART2665chr17:
7736074-7736074
GCsplicingMaternalsplicing17.368.238E-6Ruzzo2019 G
DNAH2     13830.p1chr17:
7630508-7630508
TCexonicDe novosynonymous SNVNM_001303270
NM_020877
c.T297C
c.T297C
p.D99D
p.D99D
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DNAH2     11712.p1chr17:
7691349-7691349
AGintronicDe novo-2.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
DNAH2     14501.p1chr17:
7720741-7720741
GAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH2     iHART1412chr17:
7719991-7719991
CTexonicPaternalstopgainNM_020877c.C9832Tp.R3278X51.02.471E-5Ruzzo2019 G
DNAH2     14125.p1chr17:
7721432-7721432
AGintronicDe novo-8.251E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH2     AU4067301chr17:
7687663-7687663
AGintronicDe novo--Yuen2017 G
DNAH2     iHART2435chr17:
7734495-7734497
CCTCexonicMaternalframeshift deletionNM_020877c.12323_12324delp.P4108fs-2.471E-5Ruzzo2019 G
DNAH2     113-07-107909chr17:
7736953-7736953
CTUTR3De novo--Satterstrom2020 E
DNAH2     iHART2944chr17:
7733981-7733982
AGAexonicMaternalframeshift deletionNM_020877c.12052delGp.E4018fs-1.65E-5Ruzzo2019 G
DNAH2     2-1195-003chr17:
7699902-7699902
GAexonicDe novononsynonymous SNVNM_020877c.G7795Ap.V2599M17.925.767E-5Yuen2016 G
Yuen2017 G
DNAH2     63-343chr17:
7627295-7627295
AGintronicDe novo--Michaelson2012 G
DNAH2     ASDFI_1583chr17:
7660448-7660448
GAexonicDe novosynonymous SNVNM_020877c.G1944Ap.E648E--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH2     DEASD_0173_001chr17:
7671509-7671509
ATexonicDe novononsynonymous SNVNM_020877c.A3865Tp.T1289S11.71-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH2     AU4056302chr17:
7633711-7633711
AGintronicDe novo--Yuen2017 G
DNAH2     G01-GEA-58-HIchr17:
7734751-7734751
TCexonicDe novononsynonymous SNVNM_020877c.T12503Cp.M4168T3.733-Lim2017 E
Satterstrom2020 E
DNAH2     AU057404chr17:
7634351-7634351
GAintronicDe novo--Yuen2017 G
DNAH2     07C69352chr17:
7673709-7673709
GAexonicDe novononsynonymous SNVNM_020877c.G4081Ap.E1361K32.0-Satterstrom2020 E
DNAH2     13007.p1chr17:
7708621-7708621
CTexonicDe novononsynonymous SNVNM_020877c.C9352Tp.R3118W22.58.239E-6Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DNAH2     1-0898-003chr17:
7736413-7736413
TCexonicDe novononsynonymous SNVNM_020877c.T13003Cp.Y4335H21.8-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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