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Results for "CFAP43"

Variant Events: 9

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
CFAP43     iHART3215chr10:
105920794-105920794
CTsplicingDe novosplicing19.39-Ruzzo2019 G
CFAP43     AU3900301chr10:
105920794-105920794
CTsplicingDe novosplicing19.39-Yuen2017 G
CFAP43     iHART3250chr10:
105890007-105890007
GAexonicMaternalstopgainNM_025145c.C4888Tp.Q1630X44.0-Ruzzo2019 G
CFAP43     Lim2017:10644chr10:
105974134-105974134
TGexonicDe novononsynonymous SNVNM_025145c.A467Cp.D156A14.5-Lim2017 E
CFAP43     iHART2215chr10:
105945839-105945839
GAexonicPaternalstopgainNM_025145c.C1903Tp.Q635X40.0-Ruzzo2019 G
CFAP43     iHART1973chr10:
105928535-105928535
CTexonicMaternalstopgainNM_025145c.G2658Ap.W886X38.09.885E-5Ruzzo2019 G
CFAP43     2-0323-003chr10:
105944885-105944885
CTexonicDe novononsynonymous SNVNM_025145c.G2030Ap.R677Q10.442.0E-4Yuen2015 G
Yuen2017 G
CFAP43     1-0215-006chr10:
106009131-106009131
TAintergenicDe novo--Yuen2017 G
CFAP43     1-0041-003chr10:
106006404-106006404
TGintergenicDe novo--Yuen2016 G
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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