Variant Results

or

or

Results for "TMC4"

Variant Events: 8

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
TMC4	1-0346-004	chr19: 54673086-54673086	C	CTCAG	intronic		De novo					-	-	Yuen2017 G
TMC4	12630.p1	chr19: 54672377-54672377	A	G	exonic		De novo	nonsynonymous SNV	NM_001145303 NM_144686	c.T490C c.T472C	p.F164L p.F158L	33.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2012b E Satterstrom2020 E Turner2017 G Wilfert2021 G
TMC4	iHART1530	chr19: 54664866-54664866	C	A	splicing		Maternal	splicing				19.55	-	Ruzzo2019 G
TMC4	JASD_Fam0154	chr19: 54666461-54666461	G	T	exonic		De novo	nonsynonymous SNV	NM_001145303 NM_144686	c.C1465A c.C1447A	p.L489I p.L483I	0.132	-	Takata2018 E
TMC4	iHART1528	chr19: 54664866-54664866	C	A	splicing		Maternal	splicing				19.55	-	Ruzzo2019 G
TMC4	ASC_CA_77_A	chr19: 54673402-54673402	G	T	intronic		De novo					-	-	Satterstrom2020 E
TMC4	08C77631	chr19: 54664623-54664623	C	T	exonic		De novo	synonymous SNV	NM_001145303 NM_144686	c.G1983A c.G1965A	p.L661L p.L655L	-	-	Satterstrom2020 E
TMC4	EGAN00001101354	chr19: 54676732-54676732	A	C	splicing		De novo	splicing				9.78	3.346E-5	Satterstrom2020 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