Variant Results

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Results for "PROSER1"

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
PROSER1	mAGRE1461	chr13: 39586225-39586225	G	A	exonic		Paternal	stopgain	NM_025138	c.C2707T	p.Q903X	46.0	3.296E-5	Cirnigliaro2023 G
PROSER1	1638001	chr13: 39605804-39605804	T	C	intronic		De novo					8.816	-	Satterstrom2020 E Trost2022 G
PROSER1	5-0071-003	chr13: 39600375-39600375	C	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
PROSER1	iHART1461	chr13: 39586225-39586225	G	A	exonic		Paternal	stopgain	NM_025138	c.C2707T	p.Q903X	46.0	3.296E-5	Ruzzo2019 G
PROSER1	SP0142390	chr13: 39605771-39605771	G	A	intronic		De novo					22.6	-	Fu2022 E Zhou2022 GE
PROSER1	111299	chr13: 39597191-39597191	G	C	exonic			nonsynonymous SNV	NM_025138	c.C641G	p.P214R	27.2	-	Woodbury-Smith2022 E
PROSER1	12396.p1	chr13: 39603410-39603414	ATACT	A	intronic							-	-	Zhou2022 GE
PROSER1	5-5152-003	chr13: 39602384-39602384	A	G	exonic		De novo	nonsynonymous SNV	NM_025138	c.T349C	p.C117R	18.78	-	Trost2022 G Zhou2022 GE
PROSER1	4771021312387-C	chr13: 39587757-39587757	G	A	exonic		De novo	synonymous SNV	NM_025138	c.C1632T	p.P544P	-	4.943E-5	Fu2022 E
PROSER1	AU3811301	chr13: 39611659-39611659	G	A	UTR5		De novo					-	-	Trost2022 G Trost2022 G 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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