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Results for "DNAH5"

Variant Events: 34

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
DNAH5     2-1089-004chr5:
13780121-13780121
TCintronicDe novo--Yuen2017 G
DNAH5     2-1508-004chr5:
13727997-13727997
GTintronicDe novo--Yuen2017 G
DNAH5     2-1411-003chr5:
13774602-13774602
GAintronicDe novo--Yuen2017 G
DNAH5     2-1180-003chr5:
13714585-13714585
GAexonicDe novononsynonymous SNVNM_001369c.C13054Tp.R4352W16.88.246E-6Yuen2016 G
Yuen2017 G
DNAH5     1-0368-004chr5:
13888762-13888762
TCintronicDe novo--Yuen2017 G
DNAH5     13999.p1chr5:
13762918-13762918
GAexonicDe novosynonymous SNVNM_001369c.C10194Tp.R3398R-1.649E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
DNAH5     11970.p1chr5:
13830776-13830776
GAexonicDe novosynonymous SNVNM_001369c.C5991Tp.L1997L-9.063E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH5     11010.p1chr5:
13883123-13883123
CTexonicDe novononsynonymous SNVNM_001369c.G3064Ap.V1022I11.413.295E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
DNAH5     AU050603chr5:
13751690-13751690
GAintronicDe novo--Yuen2017 G
DNAH5     AU3889305chr5:
14095643-14095643
TGintergenicDe novo--Yuen2017 G
DNAH5     1-0715-003chr5:
13894298-13894298
AGintronicDe novo--Yuen2017 G
DNAH5     11610.p1chr5:
13923403-13923404
CACexonicDe novoframeshift deletionNM_001369c.423delTp.P141fs--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
DNAH5     AU1725302chr5:
14019795-14019796
AGAintergenicDe novo--Yuen2017 G
DNAH5     2-0210-005chr5:
14098768-14098768
GCintergenicDe novo--Yuen2017 G
DNAH5     iHART2383chr5:
13944490-13944490
CTsplicingMaternalsplicing19.57-Ruzzo2019 G
DNAH5     iHART2382chr5:
13944490-13944490
CTsplicingMaternalsplicing19.57-Ruzzo2019 G
DNAH5     5-0077-004chr5:
14084590-14084590
AGintergenicDe novo--Yuen2017 G
DNAH5     iHART1295chr5:
13701425-13701425
TTAexonicMaternalstopgainNM_001369c.13458dupTp.N4487_P4488delinsX-5.783E-5Ruzzo2019 G
DNAH5     SP0026933chr5:
13922289-13922289
CTexonicMosaicnonsynonymous SNVNM_001369c.G587Ap.R196H9.7142.474E-5Feliciano2019 E
DNAH5     1-0452-003chr5:
13797467-13797481
AAAACAAACAAACAAAAAACAAACAAintronicDe novo--Yuen2017 G
DNAH5     AU057404chr5:
14103259-14103259
TCintergenicDe novo--Yuen2017 G
DNAH5     AU3811305chr5:
14096604-14096604
AGintergenicDe novo--Yuen2017 G
DNAH5     AU050604chr5:
13925667-13925667
GAintronicDe novo--Yuen2017 G
DNAH5     A14chr5:
14112232-14112232
TGintergenicDe novo--Wu2018 G
DNAH5     2-0307-003chr5:
13961198-13961198
GCintergenicDe novo--Yuen2017 G
DNAH5     2-1466-003chr5:
14078454-14078454
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
DNAH5     Codina-Sola2015:ASD_28chr5:
13859690-13859690
CAexonicMaternalnonsynonymous SNVNM_001369c.G4821Tp.Q1607H13.147.414E-5Codina-Sola2015 E
DNAH5     1-0998-003chr5:
14011423-14011423
GAintergenicDe novo--Yuen2017 G
DNAH5     1-0445-003chr5:
13781441-13781441
GTintronicDe novo--Yuen2017 G
DNAH5     2-1085-004chr5:
13721815-13721815
AGintronicDe novo--Yuen2017 G
DNAH5     09C85587chr5:
13817649-13817649
TCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DNAH5     AU3849302chr5:
13990619-13990619
AGintergenicDe novo--Yuen2017 G
DNAH5     1-0080-003chr5:
13736182-13736182
CTintronicDe novo--Yuen2017 G
DNAH5     AU005213chr5:
13721865-13721865
CTintronicDe 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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