Variant Results

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Results for "SMR3B"

Variant Events: 5

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
SMR3B	AU2863302	chr4: 71261171-71261171	T	C	intergenic		De novo					-	-	Yuen2017 G
SMR3B	Codina-Sola2015:ASD_7	chr4: 71255478-71255478	T	TC	exonic		Paternal	frameshift insertion	NM_006685	c.154dupC	p.P51fs	-	0.0035	Codina-Sola2015 E
SMR3B	iHART2350	chr4: 71250280-71250284	CAGTA	C	exonic		Maternal	frameshift deletion	NM_006685	c.54_54del	p.T18fs	-	6.226E-5	Ruzzo2019 G
SMR3B	TRE_772	chr4: 71255463-71255463	T	C	exonic		De novo	synonymous SNV	NM_006685	c.T138C	p.V46V	-	-	Fu2022 E
SMR3B	AU043804	chr4: 71255561-71255561	C	T	exonic		De novo	nonsynonymous SNV	NM_006685	c.C236T	p.P79L	3.113	-	Yuen2017 G

Source Variant Information

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Paper Information

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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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