or
or
Exact

Results for "DNAH11"

Variant Events: 42

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
DNAH11     2-0219-004chr7:
21707444-21707444
GCintronicDe novo--Yuen2017 G
DNAH11     5-0045-003chr7:
21753018-21753018
TCintronicDe novo--Yuen2017 G
DNAH11     1-0591-003chr7:
21649745-21649745
GAintronicDe novo--Yuen2017 G
DNAH11     2-1183-003chr7:
21809397-21809397
CTintronicDe novo--Yuen2017 G
DNAH11     1-0272-003chr7:
21922041-21922041
GCintronicDe novo--Yuen2017 G
DNAH11     2-1501-003chr7:
21803391-21803391
AGintronicDe novo--Yuen2017 G
DNAH11     1-0925-003chr7:
21663270-21663270
CAintronicDe novo--Yuen2017 G
DNAH11     2-1361-003chr7:
21841253-21841253
ACintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH11     2-0198-004chr7:
21752702-21752702
GAintronicDe novo--Yuen2017 G
DNAH11     2-0198-004chr7:
21628665-21628665
TTAAAGCAintronicDe novo--Yuen2017 G
DNAH11     12715.p1chr7:
21583143-21583143
CTexonicDe novosynonymous SNVNM_001277115c.C280Tp.L94L--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH11     2-1452-003chr7:
21844311-21844311
CGintronicDe novo--Yuen2017 G
DNAH11     13915.p1chr7:
21659676-21659676
GCexonicDe novononsynonymous SNVNM_001277115c.G4480Cp.E1494Q16.53-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DNAH11     SSC08566chr7:
21737764-21737764
AGexonicDe novononsynonymous SNVNM_001277115c.A6113Gp.D2038G13.28-Lim2017 E
DNAH11     13774.p1chr7:
21737764-21737764
AGexonicDe novononsynonymous SNVNM_001277115c.A6113Gp.D2038G13.28-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
DNAH11     A10chr7:
21871994-21871994
CTintronicDe novo--Wu2018 G
DNAH11     11194.p1chr7:
21932430-21932430
AGintronicDe novo--Turner2016 G
DNAH11     Shi2013:2chr7:
21904177-21904177
GCexonicInheritednonsynonymous SNVNM_001277115c.G11398Cp.D3800H13.42.489E-5Shi2013 G
DNAH11     200675722@1082034785chr7:
21784131-21784131
CTexonicDe novononsynonymous SNVNM_001277115c.C8230Tp.R2744C21.49.937E-5Satterstrom2020 E
DNAH11     Shi2013:1chr7:
21904177-21904177
GCexonicInheritednonsynonymous SNVNM_001277115c.G11398Cp.D3800H13.42.489E-5Shi2013 G
DNAH11     2-1345-003chr7:
21656275-21656275
TAintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH11     2-1617-003chr7:
21631756-21631756
CAintronicDe novo--Yuen2017 G
DNAH11     AU3807302chr7:
21667328-21667333
TTGATGTTGATGATGintronicDe novo--Yuen2017 G
DNAH11     NDAR_INVZH981YV9_wes1chr7:
21747364-21747364
GAexonicDe novosynonymous SNVNM_001277115c.G6594Ap.P2198P-2.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH11     UK10K_SKUSE5080317chr7:
21765433-21765433
CGexonicDe novononsynonymous SNVNM_001277115c.C7271Gp.S2424C11.481.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DNAH11     2-1258-004chr7:
21902717-21902717
GAintronicDe novo--Yuen2017 G
DNAH11     Uddin2014:12chr7:
21737764-21737764
AGexonicDe novononsynonymous SNVNM_001277115c.A6113Gp.D2038G13.28-Uddin2014 E
DNAH11     1-0210-004chr7:
21736002-21736002
AGintronicDe novo--Yuen2017 G
DNAH11     AU3122301chr7:
21860381-21860381
AGintronicDe novo--Yuen2017 G
DNAH11     14257.p1chr7:
21628122-21628122
AGintronicDe novo--Satterstrom2020 E
DNAH11     iHART1350chr7:
21857833-21857833
AGsplicingPaternalsplicing13.73-Ruzzo2019 G
DNAH11     iHART2949chr7:
21677228-21677228
GAsplicingMaternalsplicing20.1-Ruzzo2019 G
DNAH11     1-0051-005chr7:
21894223-21894223
AGintronicDe novo--Yuen2017 G
DNAH11     2-0198-005chr7:
21752702-21752702
GAintronicDe novo--Yuen2017 G
DNAH11     1-0051-004chr7:
21894223-21894223
AGintronicDe novo--Yuen2017 G
DNAH11     13783.p1chr7:
21582977-21582977
GAexonicDe novosynonymous SNVNM_001277115c.G114Ap.E38E--Krumm2015 E
Satterstrom2020 E
DNAH11     AU3302302chr7:
21592433-21592433
TCintronicDe novo--Yuen2017 G
DNAH11     A3chr7:
21874738-21874738
ACintronicDe novo--Wu2018 G
DNAH11     AU3646301chr7:
21784723-21784723
TGintronicDe novo--Yuen2017 G
DNAH11     1-0469-003chr7:
21675848-21675848
CGintronicDe novo--Yuen2017 G
DNAH11     2-1353-003chr7:
21861341-21861341
CTintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH11     2-0022-005chr7:
21767791-21767791
AGintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More