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Results for "DNAH7"

Variant Events: 33

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
DNAH7     1-0051-005chr2:
196834084-196834088
ATAGTAintronicDe novo--Yuen2017 G
DNAH7     AU3343301chr2:
196899554-196899554
TCintronicDe novo--Yuen2017 G
DNAH7     5-0003-004chr2:
196693606-196693606
TAintronicDe novo--Yuen2017 G
DNAH7     AU4269301chr2:
196821448-196821448
CAintronicDe novo--Yuen2017 G
DNAH7     AU4378301chr2:
196604483-196604483
GAintronicDe novo--Yuen2017 G
DNAH7     2-0503-003chr2:
196860168-196860171
ACTTAintronicDe novo--Yuen2017 G
DNAH7     2-1506-003chr2:
196877611-196877611
TCexonicDe novononsynonymous SNVNM_018897c.A889Gp.I297V3.3668.501E-6Yuen2017 G
DNAH7     AU02404chr2:
196640603-196640603
ACexonicDe novosynonymous SNVNM_018897c.T11169Gp.T3723T--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
DNAH7     2-1380-003chr2:
196979435-196979435
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
DNAH7     DEASD_0020_001chr2:
196729541-196729541
CAexonicDe novononsynonymous SNVNM_018897c.G6838Tp.D2280Y14.39-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH7     JASD_Fam0040chr2:
196891487-196891487
TCexonicDe novononsynonymous SNVNM_018897c.A664Gp.I222V17.518.473E-6Takata2018 E
DNAH7     2-1189-003chr2:
196992985-196992985
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
DNAH7     iHART2186chr2:
196651812-196651812
CTexonicMaternalstopgainNM_018897c.G10800Ap.W3600X34.0-Ruzzo2019 G
DNAH7     1-0051-004chr2:
196834084-196834088
ATAGTAintronicDe novo--Yuen2017 G
DNAH7     iHART2940chr2:
196912113-196912113
GAexonicMaternalstopgainNM_018897c.C361Tp.R121X15.060.001Ruzzo2019 G
DNAH7     iHART3268chr2:
196756416-196756416
AACCexonicMaternalframeshift insertionNM_018897c.5008_5009insGGp.V1670fs--Ruzzo2019 G
DNAH7     SSC08767chr2:
196759791-196759791
CTexonicDe novononsynonymous SNVNM_018897c.G4805Ap.R1602H33.03.322E-5Lim2017 E
DNAH7     2-1174-005Bchr2:
196609820-196609820
AGintronicDe novo--Yuen2017 G
DNAH7     3-0185-000chr2:
196619865-196619865
CTintronicDe novo--Yuen2017 G
DNAH7     1-0273-004chr2:
196776295-196776295
ACintronicDe novo--Yuen2017 G
DNAH7     1-0299-004chr2:
196769063-196769063
CGintronicDe novo--Yuen2017 G
DNAH7     AU050704chr2:
196826176-196826176
GTintronicDe novo--Yuen2017 G
DNAH7     13619.p1chr2:
196759791-196759791
CTexonicDe novononsynonymous SNVNM_018897c.G4805Ap.R1602H33.03.322E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DNAH7     2-0503-004chr2:
196860168-196860171
ACTTAintronicDe novo--Yuen2017 G
DNAH7     1-0674-004chr2:
196692285-196692285
TGintronicDe novo--Yuen2017 G
DNAH7     2-1370-003chr2:
196908756-196908756
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH7     1-0375-003chr2:
196878144-196878144
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DNAH7     7-0249-003chr2:
196881068-196881068
TCintronicDe novo--Yuen2017 G
DNAH7     2-1275-003chr2:
196827713-196827716
TACCTintronicDe novo--Yuen2017 G
DNAH7     2-1567-003chr2:
196702547-196702547
TCintronicDe novo--Yuen2017 G
DNAH7     08C79624chr2:
196749550-196749550
ACintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DNAH7     AU4188302chr2:
196968400-196968403
TCCCTCCCCintergenicDe novo--Yuen2017 G
DNAH7     1-0032-003chr2:
196733929-196733929
ACintronicDe 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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