Variant Results

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Results for "SRPRA"

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
SRPRA	4176_18au	chr11: 126138744-126138750	CCGCGTT	C	UTR5		De novo					-	-	Fu2022 E
SRPRA	4B858	chr11: 126135860-126135860	A	ATG	exonic		De novo	frameshift insertion	NM_001177842 NM_003139	c.964_965insCA c.1048_1049insCA	p.I322fs p.I350fs	-	-	Fu2022 E Satterstrom2020 E
SRPRA	142444	chr11: 126134932-126134933	CA	C	exonic		De novo	frameshift deletion	NM_001177842 NM_003139	c.1362delT c.1446delT	p.G454fs p.G482fs	-	-	Fu2022 E Satterstrom2020 E
SRPRA	12086.p1	chr11: 126134982-126134982	C	T	exonic		De novo	nonsynonymous SNV	NM_001177842 NM_003139	c.G1313A c.G1397A	p.R438H p.R466H	35.0	8.253E-6	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Turner2017 G Wilfert2021 G
SRPRA	5915	chr11: 126134982-126134982	C	T	exonic		De novo	nonsynonymous SNV	NM_001177842 NM_003139	c.G1313A c.G1397A	p.R438H p.R466H	35.0	8.253E-6	Fu2022 E
SRPRA	SP0098898	chr11: 126136699-126136699	C	T	exonic		De novo	synonymous SNV	NM_001177842 NM_003139	c.G561A c.G645A	p.E187E p.E215E	-	-	Fu2022 E
SRPRA	G01-GEA-278-HI	chr11: 126137576-126137576	T	C	exonic		De novo	nonsynonymous SNV	NM_001177842 NM_003139	c.A149G c.A233G	p.Y50C p.Y78C	14.57	-	Fu2022 E Satterstrom2020 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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