Variant Results

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Results for "MORC2"

Variant Events: 8

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
MORC2	SP0074130	chr22: 31329589-31329589	C	T	intronic		De novo					-	-	Fu2022 E
MORC2	Mahjani2021:50	chr22: 31338245-31338245	A	G	exonic			nonsynonymous SNV	NM_001303256 NM_001303257 NM_014941	c.T440C c.T440C c.T254C	p.L147P p.L147P p.L85P	25.5	-	Mahjani2021 E
MORC2	SP0017784	chr22: 31337562-31337564	CAG	C	intronic		De novo					-	-	Trost2022 G
MORC2	SP0071647	chr22: 31352776-31352776	C	A	exonic			nonsynonymous SNV	NM_001303256 NM_001303257	c.G130T c.G130T	p.D44Y p.D44Y	20.2	-	Zhou2022 GE
MORC2	1-0388-003	chr22: 31329948-31329948	T	G	intronic		De novo					-	-	Trost2022 G
MORC2	1-1221-003	chr22: 31328301-31328301	G	A	intronic		De novo					-	-	Trost2022 G
MORC2	1-0546-003	chr22: 31350528-31350528	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
MORC2	10-1155-003	chr22: 31325433-31325433	T	TA	intronic		De novo					-	-	Trost2022 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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