Variant Results

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Results for "KATNBL1"

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
KATNBL1	1-0339-003	chr15: 34515071-34515071	A	G	intergenic		De novo					-	-	Yuen2017 G
KATNBL1	AU0452304	chr15: 34498882-34498882	C	T	intronic		De novo					-	-	Yuen2017 G
KATNBL1	iHART2507	chr15: 34440831-34440832	AC	A	splicing		Maternal	splicing				-	-	Ruzzo2019 G
KATNBL1	1-0522-003	chr15: 34477509-34477509	C	T	intronic		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
KATNBL1	AU031404	chr15: 34479101-34479101	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
KATNBL1	AU3858302	chr15: 34478895-34478899	CTCAG	CTCAGTCAG	intronic		De novo					-	-	Yuen2017 G
KATNBL1	3-0107-001	chr15: 34493626-34493626	T	C	intronic		De novo					-	-	Trost2022 G
KATNBL1	mAGRE2507	chr15: 34440831-34440832	AC	A	splicing		Maternal	splicing				-	-	Cirnigliaro2023 G
KATNBL1	2-1347-003	chr15: 34443709-34443709	G	C	intronic		De novo					-	-	Trost2022 G
KATNBL1	MSSNG00019-003A	chr15: 34467357-34467357	A	G	intronic		De novo					-	-	Trost2022 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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