Variant Results

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Results for "HSD3B2"

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
HSD3B2	NDAR_INVNX928JZW_wes1	chr1: 119964751-119964751	G	A	exonic		De novo	synonymous SNV	NM_000198 NM_001166120	c.G627A c.G627A	p.G209G p.G209G	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
HSD3B2	mAGRE4694	chr1: 119965055-119965055	C	T	exonic		Maternal	stopgain	NM_000198 NM_001166120	c.C931T c.C931T	p.Q311X p.Q311X	14.5	8.241E-6	Cirnigliaro2023 G
HSD3B2	1-0526-003	chr1: 120025243-120025245	CCT	C	intergenic		De novo					-	-	Yuen2017 G
HSD3B2	1-0384-003	chr1: 120045043-120045043	T	C	intergenic		De novo					-	-	Yuen2017 G
HSD3B2	2-1510-003	chr1: 119981065-119981065	T	A	intergenic		De novo					-	-	Yuen2017 G
HSD3B2	AU2427302	chr1: 120022236-120022236	C	T	intergenic		De novo					-	-	Yuen2017 G
HSD3B2	1237_17au	chr1: 119962339-119962339	G	C	intronic		De novo					-	-	Fu2022 E
HSD3B2	4691003270231-C	chr1: 119962291-119962291	T	C	intronic		De novo					-	-	Fu2022 E
HSD3B2	AU3190305	chr1: 120034983-120034983	C	T	intergenic		De novo					-	-	Yuen2017 G
HSD3B2	1-0512-003	chr1: 119973473-119973486	TACACACACACACA	TACACACACACA	intergenic		De novo					-	-	Yuen2017 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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