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Results for "DNAH17"

Variant Events: 45

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     AU3692302chr17:
76445544-76445545		TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Cirnigliaro2023 G
DNAH17     AU3692301chr17:
76445544-76445545		TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Cirnigliaro2023 G
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--Trost2022 G
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
Trost2022 G
Zhou2022 GE
DNAH17     ASC_9712chr17:
76455196-76455196		GAexonicDe novononsynonymous SNVNM_173628c.C9748Tp.R3250C24.12.472E-5Fu2022 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
Trost2022 G
Turner2017 G
Wilfert2021 G
Zhou2022 GE
DNAH17     14028_p1chr17:
76420082-76420082		GAexonicDe novononsynonymous SNVNM_173628c.C13294Tp.R4432C20.84.942E-5Fu2022 E
DNAH17     mAGRE4172chr17:
76556984-76556984		ATexonicPaternalstopgainNM_173628c.T1869Ap.Y623X35.0-Cirnigliaro2023 G
DNAH17     mAGRE4171chr17:
76556984-76556984		ATexonicPaternalstopgainNM_173628c.T1869Ap.Y623X35.0-Cirnigliaro2023 G
DNAH17     AU3903302chr17:
76528563-76528563		CAsplicingPaternalsplicing14.934.73E-5Cirnigliaro2023 G
DNAH17     AU3903301chr17:
76528563-76528563		CAsplicingPaternalsplicing14.934.73E-5Cirnigliaro2023 G
DNAH17     AGG0091chr17:
76476781-76476781		GAexonicDe novosynonymous SNVNM_173628c.C7737Tp.I2579I-3.411E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DNAH17     AU2458303chr17:
76496428-76496429		TGTexonicPaternalframeshift deletionNM_173628c.5598delCp.T1866fs--Cirnigliaro2023 G
DNAH17     AU1988301chr17:
76451809-76451809		CTexonicDe novononsynonymous SNVNM_173628c.G10087Ap.V3363M19.612.597E-5Yuen2017 G
Zhou2022 GE
DNAH17     11550-1chr17:
76424733-76424737		CCATACexonicDe novoframeshift deletionNM_173628c.12457_12460delp.Y4153fs--Fu2022 E
DNAH17     AU2458302chr17:
76496428-76496429		TGTexonicPaternalframeshift deletionNM_173628c.5598delCp.T1866fs--Cirnigliaro2023 G
DNAH17     mAGRE6017chr17:
76476764-76476764		ATsplicingPaternalsplicing13.032.0E-4Cirnigliaro2023 G
DNAH17     SP0010571chr17:
76482549-76482549		CTexonicDe novosynonymous SNVNM_173628c.G6858Ap.S2286S-5.975E-5Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
DNAH17     MT_181.3chr17:
76419823-76419823		AGUTR3De novo--Trost2022 G
DNAH17     G01-GEA-182-HIchr17:
76526435-76526435		CTexonicDe novononsynonymous SNVNM_173628c.G3274Ap.V1092I18.026.236E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DNAH17     iHART3142chr17:
76445544-76445545		TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Ruzzo2019 G
DNAH17     SP0114190chr17:
76476840-76476840		CAexonicDe novononsynonymous SNVNM_173628c.G7678Tp.D2560Y15.21-Fu2022 E
Zhou2022 GE
DNAH17     2-1107-003chr17:
76570760-76570760		CGintronicDe novo--Yuen2017 G
DNAH17     iHART3217chr17:
76528563-76528563		CAsplicingPaternalsplicing14.934.73E-5Ruzzo2019 G
DNAH17     SP0062812chr17:
76525615-76525615		GAexonicDe novononsynonymous SNVNM_173628c.C3446Tp.T1149I20.9-Fu2022 E
Zhou2022 GE
DNAH17     G01-GEA-95-HIchr17:
76425328-76425328		GAexonicDe novosynonymous SNVNM_173628c.C12279Tp.H4093H--Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DNAH17     iHART3141chr17:
76445544-76445545		TCTexonicPaternalframeshift deletionNM_173628c.11162delGp.G3721fs-8.424E-5Ruzzo2019 G
DNAH17     SP0062369chr17:
76488738-76488738		GCexonicDe novononsynonymous SNVNM_173628c.C6518Gp.P2173R21.6-Fu2022 E
Trost2022 G
Zhou2022 GE
DNAH17     2-0319-003chr17:
76606371-76606371		AGintergenicDe novo--Yuen2017 G
DNAH17     AU2248301chr17:
76456403-76456403		CTintronicDe novo--Yuen2017 G
DNAH17     SP0015806chr17:
76455859-76455859		GAintronicDe novo-9.089E-5Fu2022 E
Zhou2022 GE
DNAH17     SP0083226chr17:
76522854-76522854		GAintronicDe novo-3.339E-5Fu2022 E
DNAH17     12357.p1chr17:
76454599-76454599		TCintronicDe novo--Satterstrom2020 E
Trost2022 G
DNAH17     Shi2013:2chr17:
76455168-76455168		GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
DNAH17     iHART3220chr17:
76528563-76528563		CAsplicingPaternalsplicing14.934.73E-5Ruzzo2019 G
DNAH17     SP0121754chr17:
76533441-76533441		GAexonicDe novosynonymous SNVNM_173628c.C2799Tp.N933N-4.268E-5Fu2022 E
Zhou2022 GE
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DNAH17     DEASD_1064_001chr17:
76422988-76422988		CTintronicDe novo-2.0E-4Satterstrom2020 E
Trost2022 G
DNAH17     Shi2013:1chr17:
76455168-76455168		GAexonicInheritednonsynonymous SNVNM_173628c.C9776Tp.A3259V18.920.0014Shi2013 G
DNAH17     SP0091359chr17:
76423206-76423206		GAintronicDe novo0.086-Fu2022 E
Zhou2022 GE
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
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