Variant Results

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Results for "MSANTD2"

Variant Events: 10

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
MSANTD2	AU3343301	chr11: 124645680-124645680	C	G	UTR5		De novo					-	-	Trost2022 G Yuen2017 G
MSANTD2	14370.p1	chr11: 124642312-124642312	G	A	intronic		De novo					-	-	Turner2016 G
MSANTD2	12019.p1	chr11: 124637785-124637785	G	A	exonic		De novo	nonsynonymous SNV	NM_001312920 NM_001308027 NM_001312921 NM_024631	c.C277T c.C967T c.C277T c.C811T	p.R93C p.R323C p.R93C p.R271C	18.26	8.247E-6	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
MSANTD2	AU3765303	chr11: 124638121-124638121	G	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
MSANTD2	MSSNG00343-003	chr11: 124653536-124653540	AAAAG	A	intronic		De novo					-	-	Trost2022 G
MSANTD2	7-0291-003A	chr11: 124657634-124657634	C	T	intronic		De novo					-	-	Trost2022 G
MSANTD2	SP0095864	chr11: 124644848-124644848	C	T	exonic		De novo	nonsynonymous SNV	NM_001308027	c.G533A	p.R178Q	23.5	-	Fu2022 E Zhou2022 GE
MSANTD2	5-5217-003	chr11: 124641903-124641903	T	C	intronic		De novo					-	-	Trost2022 G
MSANTD2	12163.p1	chr11: 124637386-124637386	T	G	exonic		De novo	nonsynonymous SNV	NM_001312920 NM_001308027 NM_001312921 NM_024631	c.A676C c.A1366C c.A676C c.A1210C	p.T226P p.T456P p.T226P p.T404P	12.14	3.301E-5	Lim2017 E
MSANTD2	SSC03595	chr11: 124637785-124637785	G	A	exonic		De novo	nonsynonymous SNV	NM_001312920 NM_001308027 NM_001312921 NM_024631	c.C277T c.C967T c.C277T c.C811T	p.R93C p.R323C p.R93C p.R271C	18.26	8.247E-6	Fu2022 E Lim2017 E Trost2022 G

Source Variant Information

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Paper Information

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Pubmed
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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