Variant Results

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Results for "SLC24A1"

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
SLC24A1	1-0508-003	chr15: 65945025-65945025	A	G	exonic		De novo	nonsynonymous SNV	NM_001254740 NM_001301031 NM_001301032 NM_004727 NM_001301033	c.A910G c.A2839G c.A2875G c.A2929G c.A2875G	p.I304V p.I947V p.I959V p.I977V p.I959V	17.77	-	Yuen2017 G
SLC24A1	AU4072303	chr15: 65921405-65921405	A	C	intronic		De novo					-	-	Yuen2017 G
SLC24A1	1-0914-003	chr15: 65931036-65931036	T	G	intronic		De novo					-	-	Yuen2017 G
SLC24A1	NDAR_INVBX440FDB_wes1	chr15: 65918236-65918236	C	G	exonic		De novo	nonsynonymous SNV	NM_001301031 NM_001301032 NM_004727 NM_001301033	c.C1818G c.C1818G c.C1818G c.C1818G	p.I606M p.I606M p.I606M p.I606M	8.661	-	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E
SLC24A1	SP0022360	chr15: 65942794-65942799	TGAAGA	T	exonic		De novo	frameshift deletion	NM_001254740 NM_001301032 NM_001301031 NM_004727 NM_001301033	c.289_293del c.2254_2258del c.2308_2312del c.2308_2312del c.2254_2258del	p.E97fs p.E752fs p.E770fs p.E770fs p.E752fs	-	-	Feliciano2019 E
SLC24A1	13438.p1	chr15: 65917219-65917219	C	T	exonic		De novo	synonymous SNV	NM_001301031 NM_001301032 NM_004727 NM_001301033	c.C801T c.C801T c.C801T c.C801T	p.N267N p.N267N p.N267N p.N267N	-	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
SLC24A1	14102.p1	chr15: 65942737-65942737	C	T	exonic		De novo	synonymous SNV	NM_001254740 NM_001301032 NM_001301031 NM_004727 NM_001301033	c.C231T c.C2196T c.C2250T c.C2250T c.C2196T	p.A77A p.A732A p.A750A p.A750A p.A732A	-	4.913E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
SLC24A1	SSC10904	chr15: 65942737-65942737	C	T	exonic		De novo	synonymous SNV	NM_001254740 NM_001301032 NM_001301031 NM_004727 NM_001301033	c.C231T c.C2196T c.C2250T c.C2250T c.C2196T	p.A77A p.A732A p.A750A p.A750A p.A732A	-	4.913E-5	Lim2017 E
SLC24A1	AU015903	chr15: 65924431-65924431	G	A	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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