Variant Results

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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	iHART3215	chr10: 105920794-105920794	C	T	splicing		De novo	splicing				19.39	-	Ruzzo2019 G
CFAP43	AU3900301	chr10: 105920794-105920794	C	T	splicing		De novo	splicing				19.39	-	Yuen2017 G
CFAP43	iHART3250	chr10: 105890007-105890007	G	A	exonic		Maternal	stopgain	NM_025145	c.C4888T	p.Q1630X	44.0	-	Ruzzo2019 G
CFAP43	iHART2215	chr10: 105945839-105945839	G	A	exonic		Paternal	stopgain	NM_025145	c.C1903T	p.Q635X	40.0	-	Ruzzo2019 G
CFAP43	iHART1973	chr10: 105928535-105928535	C	T	exonic		Maternal	stopgain	NM_025145	c.G2658A	p.W886X	38.0	9.885E-5	Ruzzo2019 G
CFAP43	1-0215-006	chr10: 106009131-106009131	T	A	intergenic		De novo					-	-	Yuen2017 G
CFAP43	Lim2017:10644	chr10: 105974134-105974134	T	G	exonic		De novo	nonsynonymous SNV	NM_025145	c.A467C	p.D156A	14.5	-	Lim2017 E
CFAP43	2-0323-003	chr10: 105944885-105944885	C	T	exonic		De novo	nonsynonymous SNV	NM_025145	c.G2030A	p.R677Q	10.44	2.0E-4	Yuen2015 G Yuen2017 G
CFAP43	1-0041-003	chr10: 106006404-106006404	T	G	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G

Source Variant Information

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Paper Information

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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.
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