Variant Results

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Results for "SLC6A8"

Variant Events: 9

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
SLC6A8	MR_1302	chrX: 152956801-152956804	CCTA	C	exonic		De novo	nonframeshift deletion	NM_001142805 NM_001142806 NM_005629	c.438_440del c.93_95del c.438_440del	p.146_147del p.31_32del p.146_147del	-	-	Satterstrom2020 E
SLC6A8	AN16641	chrX: 152954233-152954234	CG	C	exonic		Unknown	frameshift deletion	NM_001142805 NM_005629	c.205delG c.205delG	p.A69fs p.A69fs	-	-	D’Gama2015 T
SLC6A8	Chen2021:32	chrX: 152960032-152960032	C	T	exonic		Maternal	stopgain	NM_001142805 NM_001142806 NM_005629	c.C1510T c.C1195T c.C1540T	p.R504X p.R399X p.R514X	33.0	-	Chen2021 GET
SLC6A8	B0657	chrX: 152960032-152960032	C	T	exonic		Maternal	stopgain	NM_001142805 NM_001142806 NM_005629	c.C1510T c.C1195T c.C1540T	p.R504X p.R399X p.R514X	33.0	-	Xiong2019 ET
SLC6A8	SP0012947	chrX: 152958752-152958752	C	T	exonic		De novo	nonsynonymous SNV	NM_001142805 NM_001142806 NM_005629	c.C947T c.C602T c.C947T	p.S316F p.S201F p.S316F	21.9	-	Feliciano2019 E
SLC6A8	13799.p1	chrX: 152958717-152958717	G	T	splicing		De novo	splicing				14.8	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
SLC6A8	11537.p1	chrX: 152959433-152959436	GTTC	G	exonic		De novo	nonframeshift deletion	NM_001142805 NM_001142806 NM_005629	c.1186_1188del c.871_873del c.1216_1218del	p.396_396del p.291_291del p.406_406del	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
SLC6A8	13557.p1	chrX: 152959900-152959900	C	T	exonic		De novo	synonymous SNV	NM_001142805 NM_001142806 NM_005629	c.C1464T c.C1149T c.C1494T	p.Y488Y p.Y383Y p.Y498Y	-	0.002	Iossifov2014 E Kosmicki2017 E
SLC6A8	Li2017:16082	chrX: 152959387-152959387	C	A	exonic		Unknown	nonsynonymous SNV	NM_001142805 NM_001142806 NM_005629	c.C1139A c.C824A c.C1169A	p.P380Q p.P275Q p.P390Q	17.59	-	Li2017 T

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Paper Information

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