Variant Results

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Results for "MMRN2"

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
MMRN2	MT_76	chr10: 88703106-88703106	G	A	exonic		Paternal	stopgain	NM_024756	c.C1435T	p.Q479X	37.0	5.802E-5	Toma2013 E
MMRN2	2-1358-003	chr10: 88700847-88700847	A	C	intronic		De novo					-	-	Yuen2017 G
MMRN2	12134.p1	chr10: 88705569-88705569	C	T	intronic		De novo					-	-	Wilfert2021 G
MMRN2	SP0044503	chr10: 88703545-88703545	A	G	exonic		De novo	synonymous SNV	NM_024756	c.T996C	p.D332D	-	8.29E-6	Fu2022 E
MMRN2	DEASD_2120_001	chr10: 88703224-88703224	G	A	exonic		De novo	synonymous SNV	NM_024756	c.C1317T	p.N439N	-	-	Fu2022 E
MMRN2	2-1345-003	chr10: 88711433-88711433	G	A	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
MMRN2	09C98975	chr10: 88703271-88703271	C	T	exonic		De novo	nonsynonymous SNV	NM_024756	c.G1270A	p.D424N	16.22	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Neale2012 E Satterstrom2020 E

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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