Variant Results

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Results for "SASS6"

Variant Events: 5

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
SASS6	SSC07552	chr1: 100573238-100573238	T	C	exonic		De novo	synonymous SNV	NM_001304829 NM_194292	c.A591G c.A1092G	p.V197V p.V364V	-	-	Fu2022 E
SASS6	TRE_909	chr1: 100573368-100573368	T	TA	exonic		De novo	stopgain	NM_001304829 NM_194292	c.552_553insT c.1053_1054insT	p.K185_V186delinsX p.K352_V353delinsX	-	-	Fu2022 E
SASS6	SP0096706	chr1: 100568553-100568553	C	T	exonic		De novo	synonymous SNV	NM_001304829 NM_194292	c.G1131A c.G1632A	p.S377S p.S544S	-	-	Fu2022 E
SASS6	Li2017:27865	chr1: 100573191-100573191	A	G	exonic		Unknown	nonsynonymous SNV	NM_001304829 NM_194292	c.T638C c.T1139C	p.L213P p.L380P	18.69	8.498E-6	Li2017 T
SASS6	13349.p1	chr1: 100573238-100573238	T	C	exonic		De novo	synonymous SNV	NM_001304829 NM_194292	c.A591G c.A1092G	p.V197V p.V364V	-	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Krupp2017 E Satterstrom2020 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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