Variant Results

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Results for "MADD"

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
MADD	iHART1286	chr11: 47295525-47295529	CAGGT	C	exonic		Paternal	frameshift deletion	NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476	c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del c.61_62del	p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs p.R21fs	-	8.419E-6	Ruzzo2019 G
MADD	SP0034419	chr11: 47305961-47305961	G	A	exonic		De novo	nonsynonymous SNV	NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476	c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A c.G2002A	p.A668T p.A668T p.A668T p.A668T p.A668T p.A668T p.A668T p.A668T p.A668T p.A668T	36.0	-	Feliciano2019 E
MADD	12015.p1	chr11: 47317586-47317586	T	C	exonic		De novo	nonsynonymous SNV	NM_001135943 NM_001135944 NM_130470 NM_130472 NM_130474 NM_130476 NM_130471 NM_130473 NM_003682 NM_130475	c.T3493C c.T3484C c.T3625C c.T3496C c.T3496C c.T3622C c.T3556C c.T3685C c.T3739C c.T3739C	p.S1165P p.S1162P p.S1209P p.S1166P p.S1166P p.S1208P p.S1186P p.S1229P p.S1247P p.S1247P	13.46	5.77E-5	Satterstrom2020 E
MADD	iHART2931	chr11: 47307000-47307000	A	G	splicing		Maternal	splicing				21.0	-	Ruzzo2019 G
MADD	iHART2932	chr11: 47307000-47307000	A	G	splicing		Maternal	splicing				21.0	-	Ruzzo2019 G
MADD	11437.p1	chr11: 47304002-47304002	C	T	exonic		De novo	nonsynonymous SNV	NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476	c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T	p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C	29.8	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G
MADD	AU4173301	chr11: 47346884-47346884	C	T	intronic		De novo					-	-	Yuen2017 G
MADD	SSC00332	chr11: 47304002-47304002	C	T	exonic		De novo	nonsynonymous SNV	NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476	c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T c.C1540T	p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C p.R514C	29.8	-	Lim2017 E
MADD	1-0835-003	chr11: 47295814-47295814	A	G	intronic		De novo					-	-	Yuen2017 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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