Variant Results

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Results for "GJB7"

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
GJB7	AU4173301	chr6: 88035744-88035744	T	G	intronic		De novo					-	-	Yuen2017 G
GJB7	13719.p1	chr6: 87994110-87994110	G	T	exonic		De novo	nonsynonymous SNV	NM_198568	c.C521A	p.T174N	16.23	-	Ji2016 E Krumm2015 E
GJB7	mAGRE4205	chr6: 88038855-88038855	C	T	splicing		Paternal	splicing				-	-	Cirnigliaro2023 G
GJB7	AU3680302	chr6: 87994252-87994257	TGATAA	T	exonic		Maternal	frameshift deletion	NM_198568	c.374_378del	p.L125fs	-	4.121E-5	Cirnigliaro2023 G
GJB7	1-1040-004	chr6: 87994468-87994468	T	C	exonic		De novo	nonsynonymous SNV	NM_198568	c.A163G	p.S55G	11.93	-	Trost2022 G
GJB7	4-0062-003	chr6: 87993064-87993064	T	A	UTR3		De novo					-	-	Trost2022 G
GJB7	2-1591-003	chr6: 88012573-88012573	G	T	intronic		De novo					-	-	Yuen2017 G
GJB7	SMHC02030s000	chr6: 87994221-87994221	C	T	exonic		De novo	nonsynonymous SNV	NM_198568	c.G410A	p.G137D	19.18	-	Yuan2023 E

Source Variant Information

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Paper Information

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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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