Variant Results

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Results for "PSMC5"

Variant Events: 7

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
PSMC5	11768_p1	chr17: 61908488-61908488	C	T	exonic		De novo	nonsynonymous SNV	NM_001199163 NM_002805	c.C748T c.C772T	p.R250W p.R258W	18.46	9.008E-6	Fu2022 E
PSMC5	SP0094075	chr17: 61909087-61909087	G	A	exonic		De novo	nonsynonymous SNV	NM_001199163 NM_002805	c.G1060A c.G1084A	p.V354M p.V362M	15.41	-	Fu2022 E
PSMC5	SP0094267	chr17: 61908775-61908775	C	G	exonic		De novo	nonsynonymous SNV	NM_001199163 NM_002805	c.C935G c.C959G	p.P312R p.P320R	19.98	-	Fu2022 E
PSMC5	PN400103	chr17: 61907221-61907221	T	A	exonic		Unknown	stopgain	NM_001199163 NM_002805	c.T152A c.T176A	p.L51X p.L59X	37.0	-	Leblond2019 E
PSMC5	11768.p1	chr17: 61908488-61908488	C	T	exonic		De novo	nonsynonymous SNV	NM_001199163 NM_002805	c.C748T c.C772T	p.R250W p.R258W	18.46	9.008E-6	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E
PSMC5	SP0105308	chr17: 61905189-61905189	T	TACTGAC	UTR5		De novo					-	-	Fu2022 E
PSMC5	SSC03344	chr17: 61908488-61908488	C	T	exonic			nonsynonymous SNV	NM_001199163 NM_002805	c.C748T c.C772T	p.R250W p.R258W	18.46	9.008E-6	Antaki2022 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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