Variant Results

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Results for "CACNA1F"

Variant Events: 4

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
CACNA1F	Codina-Sola2015:ASD_32	chrX: 49083444-49083444	C	T	exonic		Maternal	nonsynonymous SNV	NM_001256789 NM_001256790 NM_005183	c.G1264A c.G1069A c.G1264A	p.D422N p.D357N p.D422N	15.5	-	Codina-Sola2015 E
CACNA1F	Viggiano2022:112.3	chrX: 49068443-49068443	C	T	exonic		Maternal	nonsynonymous SNV	NM_001256789 NM_001256790 NM_005183	c.G4015A c.G3853A c.G4048A	p.G1339S p.G1285S p.G1350S	23.2	2.284E-5	Viggiano2022 GT
CACNA1F	2-0144-004	chrX: 49077265-49077265	C	T	intronic		De novo					-	-	Yuen2017 G
CACNA1F	Viggiano2022:5.3	chrX: 49067820-49067820	C	T	exonic		Maternal	nonsynonymous SNV	NM_001256789 NM_001256790 NM_005183	c.G4222A c.G4060A c.G4255A	p.A1408T p.A1354T p.A1419T	11.13	1.145E-5	Viggiano2022 GT

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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