Variant Results

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Results for "PDE1B"

Variant Events: 5

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
PDE1B	DEASD_0237_002	chr12: 54966430-54966430	G	A	exonic		De novo	nonsynonymous SNV	NM_001315535 NM_001165975 NM_001288769 NM_001315534 NM_000924 NM_001288768	c.G28A c.G580A c.G517A c.G229A c.G640A c.G229A	p.G10S p.G194S p.G173S p.G77S p.G214S p.G77S	32.0	-	DeRubeis2014 E Kosmicki2017 E Lim2017 E Zhou2022 GE
PDE1B	SP0017232	chr12: 54943667-54943667	C	G	exonic		De novo	nonsynonymous SNV	NM_000924	c.C11G	p.S4C	17.35	-	Feliciano2019 E Fu2022 E Trost2022 G Zhou2022 GE
PDE1B	21854-36022	chr12: 54955390-54955390	C	T	exonic		Inherited	stopgain	NM_001165975	c.C22T	p.Q8X	37.0	0.001	Callaghan2019 G
PDE1B	3-0534-000	chr12: 54967891-54967891	C	G	intronic		De novo					-	-	Trost2022 G
PDE1B	SMHC01637s000	chr12: 54967243-54967243	A	G	exonic		De novo	nonsynonymous SNV	NM_001315535 NM_001165975 NM_001288769 NM_001315534 NM_000924 NM_001288768	c.A329G c.A881G c.A818G c.A530G c.A941G c.A530G	p.N110S p.N294S p.N273S p.N177S p.N314S p.N177S	22.4	-	Yuan2023 E

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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