Variant Results

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Results for "ADAM15"

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
ADAM15	mAGRE4034	chr1: 155034453-155034453	T	C	splicing		Maternal	splicing				16.13	8.741E-6	Cirnigliaro2023 G
ADAM15	mAGRE3041	chr1: 155028429-155028429	C	T	exonic		Maternal	stopgain	NM_001261464 NM_001261465 NM_001261466 NM_003815 NM_207191 NM_207194 NM_207195 NM_207196 NM_207197	c.C727T c.C697T c.C649T c.C697T c.C697T c.C697T c.C697T c.C697T c.C697T	p.Q243X p.Q233X p.Q217X p.Q233X p.Q233X p.Q233X p.Q233X p.Q233X p.Q233X	19.45	8.238E-6	Cirnigliaro2023 G
ADAM15	SP0125546	chr1: 155032447-155032447	A	C	exonic		De novo	nonsynonymous SNV	NM_001261464 NM_001261465 NM_003815 NM_207191 NM_207194 NM_207195 NM_207196 NM_207197	c.A2095C c.A2065C c.A2065C c.A2065C c.A2065C c.A2065C c.A2065C c.A2065C	p.K699Q p.K689Q p.K689Q p.K689Q p.K689Q p.K689Q p.K689Q p.K689Q	10.83	-	Fu2022 E
ADAM15	SP0083996	chr1: 155033921-155033921	C	A	exonic		De novo	nonsynonymous SNV	NM_207194 NM_207196 NM_207197	c.C2308A c.C2305A c.C2308A	p.P770T p.P769T p.P770T	21.2	5.035E-5	Fu2022 E Trost2022 G Zhou2022 GE
ADAM15	ASDFI_1061	chr1: 155026403-155026403	G	A	exonic		De novo	nonsynonymous SNV	NM_001261464 NM_001261465 NM_001261466 NM_003815 NM_207191 NM_207194 NM_207195 NM_207196 NM_207197	c.G311A c.G281A c.G233A c.G281A c.G281A c.G281A c.G281A c.G281A c.G281A	p.R104H p.R94H p.R78H p.R94H p.R94H p.R94H p.R94H p.R94H p.R94H	12.2	8.247E-6	Lim2017 E
ADAM15	SP0172858	chr1: 155034393-155034393	A	G	exonic		De novo	nonsynonymous SNV	NM_207195 NM_207196 NM_207197	c.A2291G c.A2363G c.A2366G	p.D764G p.D788G p.D789G	10.91	-	Trost2022 G
ADAM15	SP0170398	chr1: 155030181-155030181	C	T	exonic		De novo	synonymous SNV	NM_001261464 NM_001261465 NM_001261466 NM_003815 NM_207191 NM_207194 NM_207195 NM_207196 NM_207197	c.C1422T c.C1392T c.C1344T c.C1392T c.C1392T c.C1392T c.C1392T c.C1392T c.C1392T	p.D474D p.D464D p.D448D p.D464D p.D464D p.D464D p.D464D p.D464D p.D464D	-	2.472E-5	Trost2022 G
ADAM15	mAGRE4451	chr1: 155034453-155034453	T	C	splicing		Maternal	splicing				16.13	8.741E-6	Cirnigliaro2023 G
ADAM15	iHART3041	chr1: 155028429-155028429	C	T	exonic		Maternal	stopgain	NM_001261464 NM_001261465 NM_001261466 NM_003815 NM_207191 NM_207194 NM_207195 NM_207196 NM_207197	c.C727T c.C697T c.C649T c.C697T c.C697T c.C697T c.C697T c.C697T c.C697T	p.Q243X p.Q233X p.Q217X p.Q233X p.Q233X p.Q233X p.Q233X p.Q233X p.Q233X	19.45	8.238E-6	Ruzzo2019 G

Source Variant Information

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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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