Variant Results

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Results for "BTN2A2"

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
BTN2A2	Cukier2014:37425	chr6: 26384060-26384060	C	T	exonic		Unknown	nonsynonymous SNV	NM_001197237 NM_001197238 NM_001197239 NM_001197240 NM_006995 NM_181531	c.C11T c.C11T c.C11T c.C11T c.C11T c.C11T	p.A4V p.A4V p.A4V p.A4V p.A4V p.A4V	13.91	0.007	Cukier2014 E
BTN2A2	Cukier2014:37425	chr6: 26385263-26385263	C	G	exonic		Unknown	nonsynonymous SNV	NM_001197237 NM_001197238 NM_001197240 NM_006995	c.C115G c.C115G c.C115G c.C115G	p.P39A p.P39A p.P39A p.P39A	11.72	0.007	Cukier2014 E
BTN2A2	2-0028-003	chr6: 26398246-26398246	A	T	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
BTN2A2	2-0300-003	chr6: 26395308-26395308	G	C	downstream		De novo					-	-	Yuen2017 G
BTN2A2	2-1644-004	chr6: 26392624-26392624	A	C	exonic		De novo	nonsynonymous SNV	NM_001197239 NM_181531 NM_001197237 NM_006995	c.A371C c.A653C c.A1001C c.A1001C	p.D124A p.D218A p.D334A p.D334A	17.36	-	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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