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Results for "DNAH8"

Variant Events: 12

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
DNAH8     1-0323-004chr6:
38731844-38731844
TGintronicDe novo--Yuen2017 G
DNAH8     2-1223-003chr6:
38739965-38739965
CTintronicDe novo--Yuen2017 G
DNAH8     7-0024-003chr6:
38872753-38872753
TCintronicDe novo--Yuen2017 G
DNAH8     08C73664chr6:
38994446-38994446
ACintronicDe novo--Satterstrom2020 E
DNAH8     7-0002-003chr6:
38873973-38873973
GAintronicDe novo--Yuen2017 G
DNAH8     AU026412chr6:
38826273-38826273
GAintronicDe novo--Yuen2017 G
DNAH8     Cukier2014:37425chr6:
38957948-38957948
CTexonicUnknownnonsynonymous SNVNM_001206927c.C13214Tp.T4405M23.34.0E-4Cukier2014 E
DNAH8     497-05-104034chr6:
38997976-38997976
GAexonicDe novosynonymous SNVNM_001206927c.G13932Ap.T4644T--Satterstrom2020 E
DNAH8     iHART2020chr6:
38941590-38941590
GAsplicingMaternalsplicing23.5-Ruzzo2019 G
DNAH8     2-1562-004chr6:
38974438-38974438
AGintronicDe novo--Yuen2017 G
DNAH8     iHART1876chr6:
38939412-38939412
CTexonicMaternalstopgainNM_001206927c.C12496Tp.R4166X53.01.0E-4Ruzzo2019 G
DNAH8     AU050910chr6:
38818967-38818967
GAintronicDe 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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