Variant Results

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Results for "CARF"

Variant Events: 6

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
CARF	AU2139303	chr2: 203815673-203815673	T	A	intronic		De novo					-	-	Yuen2017 G
CARF	1-0520-003	Complex Event; expand row to view variants					De novo					-	-	Yuen2016 G Yuen2017 G
CARF	AU3937301	chr2: 203827148-203827148	A	G	intronic		De novo					-	-	Yuen2017 G
CARF	SP0058358	chr2: 203826059-203826059	C	T	exonic		De novo	nonsynonymous SNV	NM_001282912 NM_001282910 NM_001104586 NM_001282911 NM_024744	c.C478T c.C514T c.C742T c.C514T c.C742T	p.R160C p.R172C p.R248C p.R172C p.R248C	21.9	2.487E-5	Fu2022 E
CARF	AU072505	chr2: 203785129-203785129	C	T	intronic		De novo					-	-	Yuen2017 G
CARF	Codina-Sola2015:ASD_19	chr2: 203848307-203848307	C	CA	exonic		Maternal	frameshift insertion	NM_001282912 NM_001282910 NM_001104586 NM_001282911 NM_024744	c.1875dupA c.1911dupA c.2139dupA c.1911dupA c.2139dupA	p.A625fs p.A637fs p.A713fs p.A637fs p.A713fs	-	0.0032	Codina-Sola2015 E

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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