Variant Results

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Results for "SLC9A6"

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
SLC9A6	Yin2020:104	chrX: 135126650-135126650	C	G	exonic			nonsynonymous SNV	NM_001042537 NM_006359 NM_001177651	c.C1873G c.C1777G c.C1717G	p.L625V p.L593V p.L573V	9.889	-	Yin2020 T
SLC9A6	AU046706	chrX: 135070588-135070609	TTTTCTTTCTTTCTTTCTTTCT	TTTTCTTTCTTTCTTTCTTTCTTTCT	intronic		De novo					-	-	Yuen2017 G
SLC9A6	AU4186302	chrX: 135224724-135224729	ATGTGT	ATGT	intergenic		De novo					-	-	Yuen2017 G
SLC9A6	AU4465303	chrX: 135215035-135215035	C	T	intergenic		De novo					-	-	Yuen2017 G
SLC9A6	Yin2020:030	chrX: 135067832-135067832	C	G	exonic			nonsynonymous SNV	NM_001042537 NM_006359 NM_001177651	c.C171G c.C171G c.C15G	p.I57M p.I57M p.I5M	13.55	3.431E-5	Yin2020 T

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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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