Variant Results

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Results for "ACLY"

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
ACLY	DEASD_0029_001	chr17: 40025344-40025344	A	G	exonic		De novo	nonsynonymous SNV	NM_001303275 NM_198830 NM_001096 NM_001303274	c.T3218C c.T3056C c.T3086C c.T3248C	p.I1073T p.I1019T p.I1029T p.I1083T	18.23	8.237E-6	DeRubeis2014 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
ACLY	DEASD_0285_001	chr17: 40060943-40060943	C	T	intronic		De novo					-	-	Kosmicki2017 E
ACLY	11029.p1	chr17: 40042385-40042385	G	A	exonic		De novo	synonymous SNV	NM_001303275 NM_198830 NM_001096 NM_001303274	c.C2184T c.C2022T c.C2052T c.C2214T	p.G728G p.G674G p.G684G p.G738G	-	3.297E-5	Iossifov2014 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Wilfert2021 G
ACLY	13539.p1	chr17: 40054992-40054992	G	A	exonic		Mosaic	synonymous SNV	NM_001096 NM_001303274 NM_001303275 NM_198830	c.C1230T c.C1392T c.C1392T c.C1230T	p.H410H p.H464H p.H464H p.H410H	-	-	Dou2017 E
ACLY	1-0345-003	chr17: 40068240-40068240	G	A	intronic		De novo					-	-	Yuen2017 G
ACLY	2-1561-003	chr17: 40052529-40052529	G	T	intronic		De novo					-	-	Yuen2017 G
ACLY	F9958-1	chr17: 40030052-40030052	C	G	intronic		De novo					-	-	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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