Variant Results

or

or

Results for "Wen2017"

Variant Events: 6

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
NRXN1	138	chr2: 50280477-50280477	T	A	exonic		Paternal	nonsynonymous SNV	NM_138735 NM_004801 NM_001135659	c.A865T c.A3970T c.A4180T	p.T289S p.T1324S p.T1394S	20.2	2.0E-4	Wen2017 E
MECP2	138	chrX: 153296824-153296824	G	A	exonic		De novo	nonsynonymous SNV	NM_001110792 NM_004992 NM_001316337	c.C491T c.C455T c.C176T	p.P164L p.P152L p.P59L	18.47	-	Wen2017 E
MECP2	548	chrX: 153296153-153296153	G	A	exonic		Maternal	nonsynonymous SNV	NM_001110792 NM_004992 NM_001316337	c.C1162T c.C1126T c.C847T	p.P388S p.P376S p.P283S	5.811	9.0E-4	Wen2017 E
CACNA1C	138	chr12: 2789681-2789681	G	A	exonic		Paternal	nonsynonymous SNV	NM_001167625	c.G5564A	p.C1855Y	5.107	5.0E-4	Wen2017 E
MECP2	660	chrX: 153296399-153296399	G	A	exonic		De novo	stopgain	NM_001110792 NM_004992 NM_001316337	c.C916T c.C880T c.C601T	p.R306X p.R294X p.R201X	32.0	-	Wen2017 E
CNTNAP2	548	chr7: 146536803-146536803	G	C	exonic		Paternal	nonsynonymous SNV	NM_014141	c.G209C	p.G70A	26.4	8.27E-6	Wen2017 E

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More