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Results for "DNAH17"

Variant Events: 25

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
DNAH17     11627.p1chr17:
76475120-76475120
GAexonicMosaic, De novononsynonymous SNVNM_173628c.C7979Tp.S2660F13.398.478E-6Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
DNAH17     AU000704chr17:
76595756-76595756
CGintergenicDe novo--Yuen2017 G
DNAH17     1-0757-003chr17:
76420874-76420874
GAintronicDe novo--Yuen2017 G
DNAH17     14028.p1chr17:
76420082-76420082
GAexonicDe novononsynonymous SNVNM_173628c.C13294Tp.R4432C20.84.942E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
DNAH17     11587.p1chr17:
76420174-76420174
GAexonicDe novononsynonymous SNVNM_173628c.C13202Tp.P4401L34.02.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
DNAH17     AGG0091chr17:
76476781-76476781
GAexonicDe novosynonymous SNVNM_173628c.C7737Tp.I2579I-3.411E-5Satterstrom2020 E
DNAH17     AU1988301chr17:
76451809-76451809
CTexonicDe novononsynonymous SNVNM_173628c.G10087Ap.V3363M19.612.597E-5Yuen2017 G
DNAH17     SP0010571chr17:
76482549-76482549
CTexonicDe novosynonymous SNVNM_173628c.G6858Ap.S2286S-5.975E-5Feliciano2019 E
DNAH17     G01-GEA-182-HIchr17:
76526435-76526435
CTexonicDe novononsynonymous SNVNM_173628c.G3274Ap.V1092I18.026.236E-5Satterstrom2020 E
DNAH17     iHART3142chr17:
76445544-76445545
TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Ruzzo2019 G
DNAH17     2-1107-003chr17:
76570760-76570760
CGintronicDe novo--Yuen2017 G
DNAH17     iHART3217chr17:
76528563-76528563
CAsplicingPaternalsplicing14.934.73E-5Ruzzo2019 G
DNAH17     G01-GEA-95-HIchr17:
76425328-76425328
GAexonicDe novosynonymous SNVNM_173628c.C12279Tp.H4093H--Lim2017 E
Satterstrom2020 E
DNAH17     iHART3141chr17:
76445544-76445545
TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Ruzzo2019 G
DNAH17     2-0319-003chr17:
76606371-76606371
AGintergenicDe novo--Yuen2017 G
DNAH17     AU2248301chr17:
76456403-76456403
CTintronicDe novo--Yuen2017 G
DNAH17     12357.p1chr17:
76454599-76454599
TCintronicDe novo--Satterstrom2020 E
DNAH17     Shi2013:2chr17:
76455168-76455168
GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
DNAH17     iHART3220chr17:
76528563-76528563
CAsplicingPaternalsplicing14.934.73E-5Ruzzo2019 G
DNAH17     SSC02779chr17:
76475120-76475120
GAexonicMosaicnonsynonymous SNVNM_173628c.C7979Tp.S2660F13.398.478E-6Lim2017 E
DNAH17     AU160Achr17:
76521156-76521156
TAexonicMosaic, De novostopgainNM_173628c.A3799Tp.K1267X44.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAH17     DEASD_1064_001chr17:
76422988-76422988
CTintronicDe novo-2.0E-4Satterstrom2020 E
DNAH17     Shi2013:1chr17:
76455168-76455168
GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
DNAH17     AU4269301chr17:
76452363-76452363
AGintronicDe novo--Yuen2017 G
DNAH17     1-0556-003chr17:
76568120-76568120
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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