Variant Results

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Results for "DMXL1"

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
DMXL1	Cukier2014:37674	chr5: 118506652-118506652	C	T	exonic		Unknown	nonsynonymous SNV	NM_001290321 NM_001290322 NM_005509	c.C6166T c.C5647T c.C6166T	p.R2056C p.R1883C p.R2056C	16.85	4.124E-5	Cukier2014 E
DMXL1	1-0464-003	chr5: 118426623-118426623	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
DMXL1	2-1086-003	chr5: 118472107-118472107	A	G	intronic		De novo					-	-	Yuen2017 G
DMXL1	AU066404	chr5: 118573465-118573465	A	G	intronic		De novo					-	-	Yuen2017 G
DMXL1	2-1325-003	chr5: 118431147-118431147	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
DMXL1	Cukier2014:17678	chr5: 118505962-118505962	C	T	exonic		Unknown	nonsynonymous SNV	NM_001290321 NM_001290322 NM_005509	c.C5476T c.C4957T c.C5476T	p.R1826C p.R1653C p.R1826C	17.17	2.0E-4	Cukier2014 E
DMXL1	5-0077-003	chr5: 118516099-118516099	A	AGT	intronic		De novo					-	-	Yuen2017 G
DMXL1	AU4233301	chr5: 118483971-118483973	GCC	GC	intronic		De novo					-	-	Yuen2017 G
DMXL1	NDAR_INVAN341TAD_wes1	chr5: 118485784-118485784	C	T	exonic		De novo	nonsynonymous SNV	NM_001290321 NM_001290322 NM_005509	c.C4262T c.C3743T c.C4262T	p.S1421L p.S1248L p.S1421L	11.08	-	DeRubeis2014 E Kosmicki2017 E Satterstrom2020 E
DMXL1	5-0077-004	chr5: 118516099-118516099	A	AGT	intronic		De novo					-	-	Yuen2017 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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