Variant Results

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Results for "EBAG9"

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
EBAG9	11824.p1	chr8: 110576670-110576670	A	T	exonic		De novo	nonsynonymous SNV	NM_001278938 NM_004215 NM_198120	c.A524T c.A524T c.A524T	p.Q175L p.Q175L p.Q175L	21.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
EBAG9	SSC03715	chr8: 110576670-110576670	A	T	exonic		De novo	nonsynonymous SNV	NM_001278938 NM_004215 NM_198120	c.A524T c.A524T c.A524T	p.Q175L p.Q175L p.Q175L	21.0	-	Fu2022 E Lim2017 E Trost2022 G
EBAG9	1-0319-003	chr8: 110555816-110555816	C	G	intronic		De novo					-	-	Trost2022 G
EBAG9	SP0128947	chr8: 110567117-110567117	G	A	splicing		De novo	splicing				23.9	-	Fu2022 E Trost2022 G Zhou2022 GE
EBAG9	AU2139303	chr8: 110561123-110561123	T	C	intronic		De novo					-	-	Trost2022 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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