Variant Results

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Results for "PUM1"

Variant Events: 9

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
PUM1	AU024105	chr1: 31543004-31543004	A	G	intergenic		De novo					-	-	Yuen2017 G
PUM1	2-1137-003	chr1: 31634181-31634181	G	A	intergenic		De novo					-	-	Yuen2016 G Yuen2017 G
PUM1	15542-26229	chr1: 31414077-31414077	C	A	exonic		Inherited	nonsynonymous SNV	NM_001020658 NM_014676	c.G3163T c.G3157T	p.G1055C p.G1053C	32.0	-	Callaghan2019 G
PUM1	09C85235	chr1: 31437728-31437728	G	A	exonic		De novo	nonsynonymous SNV	NM_001020658 NM_014676	c.C2116T c.C2116T	p.R706C p.R706C	19.32	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
PUM1	1-0661-003	chr1: 31466601-31466601	C	A	intronic		De novo					-	-	Yuen2017 G
PUM1	SP0081836	chr1: 31538537-31538537	T	G	UTR5		De novo					16.31	6.707E-5	Fu2022 E
PUM1	SP0005799	chr1: 31465457-31465457	C	T	exonic		De novo	nonsynonymous SNV	NM_001020658 NM_014676	c.G938A c.G938A	p.G313D p.G313D	27.9	-	Fu2022 E
PUM1	2-1005-003	chr1: 31534279-31534279	A	G	intronic		De novo					-	-	Yuen2017 G
PUM1	SP0119749	chr1: 31414948-31414948	G	C	exonic		De novo	nonsynonymous SNV	NM_001020658 NM_014676	c.C3017G c.C3011G	p.P1006R p.P1004R	22.6	-	Antaki2022 GE Fu2022 E

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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