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Results for "DNAH3"

Variant Events: 49

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
DNAH3     2-1300-003chr16:
21109241-21109242
TATAAintronicDe novo--Yuen2017 G
DNAH3     Li2017:20711chr16:
20966188-20966188
CTexonicUnknownnonsynonymous SNVNM_017539c.G11018Ap.G3673D26.58.239E-6Li2017 T
DNAH3     Li2017:18927chr16:
20966299-20966299
GTexonicUnknownnonsynonymous SNVNM_017539c.C10907Ap.P3636H27.82.0E-4Li2017 T
DNAH3     7-0253-005chr16:
21029568-21029568
TCintronicDe novo--Yuen2017 G
DNAH3     A11031-3chr16:
21108742-21108743
CTCexonicUnknownframeshift deletionNM_017539c.2598delAp.K866fs--Li2017 T
DNAH3     74-0352chr16:
21135458-21135458
AGintronicUnknown--Michaelson2012 G
DNAH3     1-0554-003chr16:
20984968-20984968
TCintronicDe novo--Yuen2017 G
DNAH3     AU3716302chr16:
21053231-21053231
GAintronicDe novo--Yuen2017 G
DNAH3     A12011-1chr16:
20966299-20966299
GTexonicUnknownnonsynonymous SNVNM_017539c.C10907Ap.P3636H27.82.0E-4Li2017 T
DNAH3     Li2017:19574chr16:
20975916-20975916
TTAexonicUnknownframeshift insertionNM_017539c.9289_9290insTp.K3097fs--Li2017 T
DNAH3     1-0219-003chr16:
20989072-20989074
TCATintronicDe novo--Yuen2017 G
DNAH3     ASDFI_986chr16:
20994072-20994072
AGexonicDe novosynonymous SNVNM_017539c.T7830Cp.D2610D-1.65E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH3     1-0985-003chr16:
21094127-21094127
CGintronicDe novo--Yuen2017 G
DNAH3     5-0077-004chr16:
21142960-21142960
CTintronicDe novo--Yuen2017 G
DNAH3     Li2017:17428chr16:
21045329-21045329
CGexonicUnknownnonsynonymous SNVNM_017539c.G5164Cp.V1722L25.91.655E-5Li2017 T
DNAH3     AU017703chr16:
20961312-20961312
GAintronicDe novo--Yuen2017 G
DNAH3     A5chr16:
21108744-21108745
TTTexonicDe novoframeshift deletionNM_017539c.2596delAp.K866fs--Wu2018 G
DNAH3     1-0568-003chr16:
21142937-21142937
GAintronicDe novo--Yuen2017 G
DNAH3     PN400499chr16:
20975976-20975976
CAexonicUnknownnonsynonymous SNVNM_017539c.G9230Tp.R3077L20.71.648E-5Leblond2019 E
DNAH3     1-0259-003chr16:
21142949-21142949
TCintronicDe novo--Yuen2017 G
DNAH3     Li2017:17558chr16:
21133264-21133264
AGsplicingUnknownsplicing17.86-Li2017 T
DNAH3     ASC_CA_96_Achr16:
21080850-21080850
GCexonicDe novosynonymous SNVNM_017539c.C3267Gp.T1089T--Satterstrom2020 E
DNAH3     Li2017:19783chr16:
21011804-21011804
GAexonicUnknownnonsynonymous SNVNM_017539c.C6163Tp.R2055W20.04.243E-5Li2017 T
DNAH3     08C72260chr16:
20996803-20996803
GAexonicDe novononsynonymous SNVNM_017539c.C7261Tp.R2421C17.585.767E-5Satterstrom2020 E
DNAH3     iHART2171chr16:
21080753-21080754
ATAexonicMaternalframeshift deletionNM_017539c.3363delAp.K1121fs-8.238E-6Ruzzo2019 G
DNAH3     iHART2449chr16:
21061005-21061005
TGsplicingPaternalsplicing24.14.121E-5Ruzzo2019 G
DNAH3     iHART1746chr16:
21170658-21170662
CCCTTCexonicMaternalframeshift deletionNM_017539c.101_104delp.E34fs-4.942E-5Ruzzo2019 G
DNAH3     AU002903chr16:
21023603-21023603
GAintronicDe novo--Yuen2017 G
DNAH3     iHART2458chr16:
21136606-21136606
GAexonicPaternalstopgainNM_017539c.C1294Tp.R432X16.428.251E-6Ruzzo2019 G
DNAH3     iHART3013chr16:
20966298-20966298
GGAexonicMaternalframeshift insertionNM_017539c.10907_10908insTp.P3636fs--Ruzzo2019 G
DNAH3     Li2017:45chr16:
20966299-20966299
GTexonicUnknownnonsynonymous SNVNM_017539c.C10907Ap.P3636H27.82.0E-4Li2017 T
DNAH3     iHART3014chr16:
20966298-20966298
GGAexonicMaternalframeshift insertionNM_017539c.10907_10908insTp.P3636fs--Ruzzo2019 G
DNAH3     Li2017:20261chr16:
20981203-20981203
TGexonicUnknownnonsynonymous SNVNM_017539c.A8369Cp.N2790T19.35-Li2017 T
DNAH3     iHART3011chr16:
20966298-20966298
GGAexonicMaternalframeshift insertionNM_017539c.10907_10908insTp.P3636fs--Ruzzo2019 G
DNAH3     iHART3012chr16:
20966298-20966298
GGAexonicMaternalframeshift insertionNM_017539c.10907_10908insTp.P3636fs--Ruzzo2019 G
DNAH3     Li2017:20272chr16:
21042525-21042525
CGexonicUnknownnonsynonymous SNVNM_017539c.G5281Cp.D1761H29.3-Li2017 T
DNAH3     Li2017:20294chr16:
21049265-21049265
AGexonicUnknownnonsynonymous SNVNM_017539c.T4768Cp.S1590P32.08.299E-6Li2017 T
DNAH3     PN400379chr16:
21145677-21145678
AGAexonicUnknownframeshift deletionNM_017539c.984delCp.P328fs--Leblond2019 E
DNAH3     Li2017:15021chr16:
20970602-20970602
CTexonicUnknownstopgainNM_017539c.G10725Ap.W3575X52.08.237E-6Li2017 T
DNAH3     2-1415-004chr16:
21079079-21079079
GGAintronicDe novo--Yuen2017 G
DNAH3     SP0034120chr16:
20990804-20990804
TCexonicDe novononsynonymous SNVNM_017539c.A7924Gp.K2642E0.027-Feliciano2019 E
DNAH3     Li2017:15061chr16:
20996534-20996534
GTexonicUnknownnonsynonymous SNVNM_017539c.C7530Ap.N2510K20.5-Li2017 T
DNAH3     Li2017:18393chr16:
20999014-20999014
CTsplicingUnknownsplicing23.6-Li2017 T
DNAH3     1-0332-003chr16:
21142960-21142960
CTintronicDe novo--Yuen2017 G
DNAH3     PN400415chr16:
20959917-20959917
CTexonicUnknownnonsynonymous SNVNM_017539c.G11231Ap.R3744Q37.01.0E-4Leblond2019 E
DNAH3     Li2017:15102chr16:
21098183-21098183
CTexonicUnknownnonsynonymous SNVNM_017539c.G2864Ap.R955Q35.02.472E-5Li2017 T
DNAH3     1-0180-004chr16:
21142915-21142915
ACintronicDe novo--Yuen2017 G
DNAH3     G01-GEA-151-MAchr16:
20996534-20996534
GAexonicDe novosynonymous SNVNM_017539c.C7530Tp.N2510N--Satterstrom2020 E
DNAH3     AU1668302chr16:
21033988-21033988
TGintronicDe 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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