Variant Results

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Results for "COCH"

Variant Events: 5

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
COCH	SP0027315	chr14: 31355353-31355353	C	T	exonic		De novo	nonsynonymous SNV	NM_001135058 NM_004086	c.C1312T c.C1312T	p.R438C p.R438C	17.77	-	Fu2022 E Trost2022 G Zhou2022 GE
COCH	SP0042795	chr14: 31346907-31346907	C	T	exonic		De novo	nonsynonymous SNV	NM_001135058 NM_004086	c.C212T c.C212T	p.S71L p.S71L	21.2	1.0E-4	Fu2022 E Trost2022 G Zhou2022 GE
COCH	mAGRE4668	chr14: 31344121-31344121	G	T	splicing		Maternal	splicing				-	6.0E-4	Cirnigliaro2023 G
COCH	iHART1876	chr14: 31355086-31355090	AAGCT	A	exonic		Paternal	frameshift deletion	NM_001135058 NM_004086	c.1046_1049del c.1046_1049del	p.K349fs p.K349fs	-	8.254E-6	Ruzzo2019 G
COCH	mAGRE1876	chr14: 31355086-31355090	AAGCT	A	exonic		Paternal	frameshift deletion	NM_001135058 NM_004086	c.1046_1049del c.1046_1049del	p.K349fs p.K349fs	-	8.254E-6	Cirnigliaro2023 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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