Variant Results

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Results for "KCNAB3"

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
KCNAB3	Li2017:20736	chr17: 7830997-7830997	A	C	exonic		Unknown	nonsynonymous SNV	NM_004732	c.T302G	p.F101C	20.7	8.237E-6	Li2017 T
KCNAB3	003-05-102508	chr17: 7826776-7826776	G	A	exonic		De novo	stopgain	NM_004732	c.C1135T	p.Q379X	23.6	-	Fu2022 E Satterstrom2020 E
KCNAB3	Li2017:15042	chr17: 7829006-7829006	A	G	exonic		Unknown	nonsynonymous SNV	NM_004732	c.T533C	p.I178T	28.2	-	Li2017 T
KCNAB3	A5	chr17: 7832621-7832622	CC	C	exonic		De novo	frameshift deletion	NM_004732	c.132delG	p.P44fs	-	-	Wu2018 G
KCNAB3	iHART3003	chr17: 7827285-7827285	C	A	splicing		Paternal	splicing				13.64	6.49E-5	Ruzzo2019 G
KCNAB3	A20	chr17: 7827752-7827752	C	CC	exonic		De novo	frameshift insertion	NM_004732	c.692dupG	p.W231fs	-	-	Wu2018 G
KCNAB3	EGAN00001101355	chr17: 7826381-7826381	T	G	UTR3		De novo					-	5.204E-5	Satterstrom2020 E
KCNAB3	A08028-3	chr17: 7827746-7827746	G	GC	exonic		Unknown	frameshift insertion	NM_004732	c.697dupG	p.A233fs	-	4.148E-5	Li2017 T

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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