Variant Results

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Results for "SLC22A6"

Variant Events: 7

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
SLC22A6	13687.p1	chr11: 62748819-62748819	G	A	exonic		De novo	synonymous SNV	NM_004790 NM_153276 NM_153277 NM_153278	c.C834T c.C834T c.C834T c.C834T	p.S278S p.S278S p.S278S p.S278S	-	7.175E-5	Krumm2015 E Satterstrom2020 E
SLC22A6	14039_p1	chr11: 62748534-62748534	G	A	exonic		De novo	synonymous SNV	NM_004790 NM_153276 NM_153277 NM_153278	c.C960T c.C960T c.C960T c.C960T	p.G320G p.G320G p.G320G p.G320G	-	-	Fu2022 E
SLC22A6	SP0087397	chr11: 62747139-62747139	T	G	intronic		De novo					-	-	Fu2022 E
SLC22A6	14039.p1	chr11: 62748534-62748534	G	A	exonic		De novo	synonymous SNV	NM_004790 NM_153276 NM_153277 NM_153278	c.C960T c.C960T c.C960T c.C960T	p.G320G p.G320G p.G320G p.G320G	-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
SLC22A6	12044.p1	chr11: 62751916-62751916	A	T	exonic		De novo	nonsynonymous SNV	NM_004790 NM_153276 NM_153277 NM_153278	c.T247A c.T247A c.T247A c.T247A	p.S83T p.S83T p.S83T p.S83T	7.505	-	Iossifov2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Wilfert2021 G
SLC22A6	NDAR_INVCE310PNM_wes1	chr11: 62751164-62751164	C	T	splicing			splicing				18.73	-	Doan2019 E
SLC22A6	12044_p1	chr11: 62751916-62751916	A	T	exonic		De novo	nonsynonymous SNV	NM_004790 NM_153276 NM_153277 NM_153278	c.T247A c.T247A c.T247A c.T247A	p.S83T p.S83T p.S83T p.S83T	7.505	-	Fu2022 E

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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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