Variant Results

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Results for "PSD"

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
PSD	TRE_471	chr10: 104172154-104172154	G	A	exonic		De novo	nonsynonymous SNV	NM_002779 NM_001270965 NM_001270966	c.C1732T c.C1732T c.C595T	p.R578W p.R578W p.R199W	19.42	1.653E-5	Fu2022 E
PSD	14035.p1	chr10: 104170802-104170802	C	T	intronic		De novo					-	8.306E-6	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
PSD	mAGRE5763	chr10: 104174619-104174619	C	T	splicing		Paternal	splicing				19.76	-	Cirnigliaro2023 G
PSD	mAGRE5762	chr10: 104174619-104174619	C	T	splicing		Paternal	splicing				19.76	-	Cirnigliaro2023 G
PSD	1711-22976	chr10: 104176196-104176197	AG	A	exonic			frameshift deletion	NM_002779 NM_001270965	c.599delC c.599delC	p.P200fs p.P200fs	-	-	Callaghan2019 G
PSD	SP0015806	chr10: 104164350-104164350	C	T	exonic		De novo	nonsynonymous SNV	NM_002779 NM_001270965 NM_001270966	c.G2690A c.G2690A c.G1553A	p.R897H p.R897H p.R518H	23.0	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
PSD	SP0157778	chr10: 104169060-104169060	G	T	intronic		De novo					-	-	Trost2022 G
PSD	SP0077270	chr10: 104168560-104168560	G	T	intronic		De novo					-	-	Fu2022 E
PSD	SP0065132	chr10: 104174759-104174773	AGGCAGTGCCTGGTG	A	exonic			frameshift deletion	NM_002779 NM_001270965	c.971_984del c.971_984del	p.P324fs p.P324fs	-	-	Antaki2022 GE Zhou2022 GE
PSD	SP0134424	chr10: 104165148-104165148	C	T	exonic		De novo	nonsynonymous SNV	NM_002779 NM_001270965 NM_001270966	c.G2281A c.G2281A c.G1144A	p.G761R p.G761R p.G382R	27.0	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE

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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