Variant Results

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Results for "BTBD8"

Variant Events: 9

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
BTBD8	AU4033305	chr1: 92584360-92584360	C	T	intronic		De novo					-	-	Yuen2017 G
BTBD8	DEASD_0003_001	chr1: 92546143-92546143	G	A	exonic		De novo	synonymous SNV	NM_183242	c.G15A	p.G5G	-	8.403E-6	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
BTBD8	7-0371-003	chr1: 92577805-92577805	A	G	intronic		De novo					-	-	Trost2022 G
BTBD8	1-0158-012	chr1: 92576828-92576829	GT	TC	intronic		De novo					-	-	Trost2022 G
BTBD8	REACH000228	chr1: 92587297-92587297	A	C	intronic		De novo					-	-	Trost2022 G
BTBD8	MT_78.3	chr1: 92545837-92545837	C	CT	upstream		De novo					-	-	Trost2022 G
BTBD8	1-0158-012	chr1: 92576818-92576818	A	G	intronic		De novo					-	-	Trost2022 G
BTBD8	AU4164301	chr1: 92558261-92558261	G	A	intronic		De novo					-	-	Yuen2017 G
BTBD8	MSSNG00098-003	chr1: 92551745-92551745	T	C	intronic		De novo					-	-	Trost2022 G

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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