Variant Results

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Results for "MED1"

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
MED1	A13	chr17: 37601335-37601335	A	C	intronic		De novo					-	-	Wu2018 G
MED1	1-0296-003	chr17: 37613023-37613023	T	TGAGTTCC	intergenic		De novo					-	-	Yuen2017 G
MED1	SP0129515	chr17: 37564189-37564192	TAGA	T	exonic		De novo	nonframeshift deletion	NM_004774	c.4282_4284del	p.1428_1428del	-	1.65E-5	Fu2022 E
MED1	13698.p1	chr17: 37596839-37596839	T	C	intronic		De novo					-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E
MED1	1-0458-005	chr17: 37588323-37588323	G	A	intronic		De novo					-	-	Yuen2017 G
MED1	AU045010	chr17: 37611258-37611258	G	A	intergenic		De novo					-	-	Yuen2017 G
MED1	1-0458-005	chr17: 37580763-37580763	T	C	intronic		De novo					-	-	Yuen2017 G
MED1	Codina-Sola2015:ASD_17	chr17: 37563901-37563901	A	AT	exonic		Maternal	frameshift insertion	NM_004774	c.4572dupA	p.S1525fs	-	-	Codina-Sola2015 E
MED1	2-1696-003	chr17: 37607445-37607445	T	G	UTR5		De novo					-	-	Yuen2017 G
MED1	08C78533	chr17: 37580003-37580003	G	T	exonic		De novo	nonsynonymous SNV	NM_004774	c.C923A	p.P308H	16.95	-	Satterstrom2020 E

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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