Variant Results

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Results for "MACC1"

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
MACC1	2-1626-003	chr7: 20219504-20219504	G	C	intronic		De novo					-	-	Yuen2017 G
MACC1	1-0674-004	chr7: 20274739-20274739	T	A	intergenic		De novo					-	-	Yuen2017 G
MACC1	iHART1145	chr7: 20199855-20199856	TG	T	exonic		Maternal	frameshift deletion	NM_182762	c.128delC	p.P43fs	-	2.0E-4	Ruzzo2019 G
MACC1	12828.p1	chr7: 20199205-20199205	A	C	exonic		De novo	nonsynonymous SNV	NM_182762	c.T779G	p.M260R	4.288	2.474E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Wilfert2021 G
MACC1	iHART1146	chr7: 20199855-20199856	TG	T	exonic		Maternal	frameshift deletion	NM_182762	c.128delC	p.P43fs	-	2.0E-4	Ruzzo2019 G
MACC1	AU3911301	chr7: 20321543-20321543	T	G	intergenic		De novo					-	-	Yuen2017 G
MACC1	AU2950302	chr7: 20311759-20311759	G	A	intergenic		De novo					-	-	Yuen2017 G
MACC1	3-0185-000	chr7: 20310125-20310125	G	A	intergenic		De novo					-	-	Yuen2017 G
MACC1	12828_p1	chr7: 20199205-20199205	A	C	exonic		De novo	nonsynonymous SNV	NM_182762	c.T779G	p.M260R	4.288	2.474E-5	Fu2022 E
MACC1	AU12104	chr7: 20199071-20199071	T	C	exonic		De novo	nonsynonymous SNV	NM_182762	c.A913G	p.M305V	13.28	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Neale2012 E Satterstrom2020 E

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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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