Variant Results

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Results for "JMJD7"

Variant Events: 9

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
JMJD7	mAGRE2989	chr15: 42128344-42128344	A	G	splicing		Paternal	splicing				20.7	1.0E-4	Cirnigliaro2023 G
JMJD7	1-0559-005	chr15: 42120926-42120926	G	T	intronic		De novo					-	-	Yuen2017 G
JMJD7	mAGRE2988	chr15: 42128344-42128344	A	G	splicing		Paternal	splicing				20.7	1.0E-4	Cirnigliaro2023 G
JMJD7	2F866	chr15: 42129382-42129382	C	T	UTR3		De novo					-	5.795E-5	Satterstrom2020 E Trost2022 G
JMJD7	AU2495302	chr15: 42127370-42127370	C	T	exonic		Maternal	stopgain	NM_001114632 NM_001198588 NM_005090	c.C421T c.C421T c.C421T	p.Q141X p.Q141X p.Q141X	34.0	-	Cirnigliaro2023 G
JMJD7	14-547	chr15: 42123328-42123328	C	T	intronic		De novo					-	-	Trost2022 G Trost2022 G
JMJD7	7-0337-004	chr15: 42127584-42127584	T	C	intronic		De novo					-	-	Trost2022 G Trost2022 G
JMJD7	iHART2988	chr15: 42128344-42128344	A	G	splicing		Paternal	splicing				20.7	1.0E-4	Ruzzo2019 G
JMJD7	iHART2989	chr15: 42128344-42128344	A	G	splicing		Paternal	splicing				20.7	1.0E-4	Ruzzo2019 G

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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