Variant Results

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Results for "MCM3AP"

Variant Events: 7

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
MCM3AP	iHART2991	chr21: 47674759-47674759	C	A	splicing		Paternal	splicing				10.33	1.657E-5	Ruzzo2019 G
MCM3AP	DEASD_0270_001	chr21: 47690513-47690514	TA	T	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
MCM3AP	72-1921	chr21: 47666565-47666565	G	A	exonic		Inherited	nonsynonymous SNV	NM_003906	c.C4526T	p.A1509V	6.38	1.657E-5	Patowary2019 E
MCM3AP	9190736	chr21: 47684272-47684272	G	A	intronic		De novo					-	-	Fu2022 E
MCM3AP	7-0222-003	chr21: 47671485-47671485	G	A	exonic		De novo	synonymous SNV	NM_003906	c.C4248T	p.S1416S	-	-	Yuen2017 G
MCM3AP	SP0062728	chr21: 47692511-47692511	T	C	exonic		De novo	nonsynonymous SNV	NM_003906	c.A2429G	p.N810S	7.719	1.65E-5	Fu2022 E
MCM3AP	SP0074777	chr21: 47703574-47703574	A	G	exonic		De novo	synonymous SNV	NM_003906	c.T1398C	p.F466F	-	-	Fu2022 E

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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