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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_001chr17:
40025344-40025344
AGexonicDe novononsynonymous SNVNM_001303275
NM_198830
NM_001096
NM_001303274
c.T3218C
c.T3056C
c.T3086C
c.T3248C
p.I1073T
p.I1019T
p.I1029T
p.I1083T
18.238.237E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ACLY     DEASD_0285_001chr17:
40060943-40060943
CTintronicDe novo--Kosmicki2017 E
ACLY     11029.p1chr17:
40042385-40042385
GAexonicDe novosynonymous SNVNM_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-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
ACLY     13539.p1chr17:
40054992-40054992
GAexonicMosaicsynonymous SNVNM_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     1-0345-003chr17:
40068240-40068240
GAintronicDe novo--Yuen2017 G
ACLY     2-1561-003chr17:
40052529-40052529
GTintronicDe novo--Yuen2017 G
ACLY     F9958-1chr17:
40030052-40030052
CGintronicDe novo--Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notesView
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