Variant Results

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Results for "DNM1L"

Variant Events: 10

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
DNM1L	AU4093301	chr12: 32843945-32843945	C	G	intronic		De novo					-	-	Yuen2017 G
DNM1L	1-0566-003	chr12: 32844400-32844400	A	G	intronic		De novo					-	-	Yuen2017 G
DNM1L	AU4093301	chr12: 32845388-32845388	A	C	intronic		De novo					-	-	Yuen2017 G
DNM1L	11657.p1	chr12: 32871609-32871609	G	A	exonic		Mosaic	nonsynonymous SNV	NM_001278463 NM_005690 NM_012062 NM_012063 NM_001278464 NM_001278465	c.G652A c.G652A c.G652A c.G652A c.G691A c.G691A	p.D218N p.D218N p.D218N p.D218N p.D231N p.D231N	36.0	-	Dou2017 E
DNM1L	11152.p1	chr12: 32896251-32896251	A	ATAATAAGCATT	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
DNM1L	iHART1192	chr12: 32875384-32875385	AT	A	exonic		Maternal	frameshift deletion	NM_001278466 NM_001278463 NM_005690 NM_012062 NM_012063 NM_001278464 NM_001278465	c.288delT c.897delT c.897delT c.897delT c.897delT c.936delT c.936delT	p.D96fs p.D299fs p.D299fs p.D299fs p.D299fs p.D312fs p.D312fs	-	-	Ruzzo2019 G
DNM1L	AU1909304	chr12: 32891141-32891141	C	G	intronic		De novo					-	-	Yuen2017 G
DNM1L	7-0023-003	chr12: 32861133-32861136	CAGA	CA	exonic		De novo	frameshift deletion	NM_001278463 NM_005690 NM_012062 NM_012063 NM_001278464 NM_001278465	c.346_347del c.346_347del c.346_347del c.346_347del c.385_386del c.385_386del	p.E116fs p.E116fs p.E116fs p.E116fs p.E129fs p.E129fs	-	-	Yuen2017 G
DNM1L	Li2017:23202	chr12: 32866197-32866197	C	A	exonic		Unknown	nonsynonymous SNV	NM_001278463 NM_005690 NM_012062 NM_012063 NM_001278464 NM_001278465	c.C511A c.C511A c.C511A c.C511A c.C550A c.C550A	p.L171I p.L171I p.L171I p.L171I p.L184I p.L184I	16.98	8.239E-6	Li2017 T
DNM1L	1-0483-003	chr12: 32842868-32842868	T	G	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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