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Results for "DNHD1"

Variant Events: 16

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
DNHD1     iHART1603chr11:
6567022-6567023
GCGexonicMaternalframeshift deletionNM_144666c.4854delCp.S1618fs--Ruzzo2019 G
DNHD1     11726.p1chr11:
6580460-6580460
AGexonicDe novononsynonymous SNVNM_144666c.A9466Gp.T3156A7.609-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
DNHD1     2-0286-004chr11:
6578823-6578823
CTexonicDe novosynonymous SNVNM_144666c.C8298Tp.H2766H--Yuen2015 G
Yuen2017 G
DNHD1     iHART1602chr11:
6567022-6567023
GCGexonicMaternalframeshift deletionNM_144666c.4854delCp.S1618fs--Ruzzo2019 G
DNHD1     iHART2006chr11:
6568740-6568740
CTexonicPaternalstopgainNM_144666c.C6571Tp.R2191X43.04.642E-5Ruzzo2019 G
DNHD1     iHART1601chr11:
6567022-6567023
GCGexonicMaternalframeshift deletionNM_144666c.4854delCp.S1618fs--Ruzzo2019 G
DNHD1     13171.p1chr11:
6592471-6592471
CTexonicMosaic Pat.nonsynonymous SNVNM_144666c.C13729Tp.P4577S9.5170.0022Dou2017 E
DNHD1     AU1448301chr11:
6567077-6567077
GAexonicDe novosynonymous SNVNM_144666c.G4908Ap.A1636A-0.008Yuen2017 G
DNHD1     MT_160chr11:
6578188-6578188
CTexonicMaternalnonsynonymous SNVNM_144666c.C7663Tp.R2555W8.9633.0E-4Toma2013 E
DNHD1     iHART2943chr11:
6560532-6560532
CTexonicPaternalstopgainNM_144666c.C3409Tp.R1137X43.05.058E-5Ruzzo2019 G
DNHD1     AU3787303chr11:
6596094-6596094
CAintergenicDe novo--Yuen2017 G
DNHD1     iHART2055chr11:
6589074-6589075
CTCexonicPaternalframeshift deletionNM_144666c.12336delTp.A4112fs-3.457E-5Ruzzo2019 G
DNHD1     iHART2120chr11:
6568802-6568802
TAexonicMaternalstopgainNM_144666c.T6633Ap.C2211X43.04.785E-5Ruzzo2019 G
DNHD1     09C84348chr11:
6541116-6541116
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DNHD1     SP0039355chr11:
6519775-6519775
GAexonicDe novosynonymous SNVNM_173589
NM_144666
c.G330A
c.G330A
p.Q110Q
p.Q110Q
--Feliciano2019 E
DNHD1     2-0270-004chr11:
6539369-6539369
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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