Variant Results

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Results for "MTERF4"

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
MTERF4	AU2002302	chr2: 242036861-242036861	A	C	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
MTERF4	mAGRE5320	chr2: 242041670-242041670	G	A	exonic		Paternal	stopgain	NM_182501	c.C19T	p.Q7X	22.3	-	Cirnigliaro2023 G
MTERF4	mAGRE5979	chr2: 242036732-242036732	G	A	exonic		Maternal	stopgain	NM_182501	c.C631T	p.Q211X	28.0	4.152E-5	Cirnigliaro2023 G
MTERF4	13856.p1	chr2: 242035720-242035720	T	A	exonic		De novo	nonsynonymous SNV	NM_182501	c.A839T	p.K280M	17.22	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E Zhou2022 GE
MTERF4	REACH000747	chr2: 242035309-242035309	A	G	UTR3		De novo					-	-	Trost2022 G Trost2022 G
MTERF4	3-0515-001	chr2: 242038112-242038118	CACAGAG	C	intronic		De novo					-	-	Trost2022 G
MTERF4	SSC09403	chr2: 242035720-242035720	T	A	exonic		De novo	nonsynonymous SNV	NM_182501	c.A839T	p.K280M	17.22	-	Fu2022 E Lim2017 E 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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