Variant Results

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Results for "MMP25"

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
MMP25	PN400137	chr16: 3109017-3109017	T	C	exonic		De novo	nonsynonymous SNV	NM_022468	c.T1607C	p.L536P	12.47	-	Leblond2019 E
MMP25	SP0032848	chr16: 3097385-3097385	C	G	intronic		De novo					-	1.743E-5	Fu2022 E
MMP25	13951.p1	Complex Event; expand row to view variants					De novo					-	-	Turner2016 G Turner2016 G
MMP25	iHART1459	chr16: 3108412-3108412	G	A	splicing		Maternal	splicing				9.268	-	Ruzzo2019 G
MMP25	mAGRE1459	chr16: 3108412-3108412	G	A	splicing		Maternal	splicing				9.268	-	Cirnigliaro2023 G
MMP25	SP0006821	chr16: 3100463-3100463	G	C	exonic		De novo	nonsynonymous SNV	NM_022468	c.G577C	p.A193P	32.0	-	Fu2022 E Trost2022 G Zhou2022 GE
MMP25	AU4186302	chr16: 3099571-3099571	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 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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