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Results for "ACACB"

Variant Events: 16

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
ACACB     iHART2507chr12:
109684020-109684020
CTexonicPaternalstopgainNM_001093c.C5338Tp.Q1780X42.08.253E-6Ruzzo2019 G
ACACB     iHART1991chr12:
109629570-109629570
TCsplicingMaternalsplicing19.358.266E-6Ruzzo2019 G
ACACB     iHART3265chr12:
109623546-109623546
GCsplicingPaternalsplicing16.158.394E-6Ruzzo2019 G
ACACB     1-0346-004chr12:
109671468-109671468
GAintronicDe novo--Yuen2017 G
ACACB     iHART1212chr12:
109660325-109660325
GGCexonicMaternalframeshift insertionNM_001093c.3579dupCp.G1193fs-1.0E-4Ruzzo2019 G
ACACB     13585.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001093
NM_001093
c.340dupG
c.340dupG
p.P113fs
p.E114fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
ACACB     7-0129-003chr12:
109644596-109644596
GAexonicDe novononsynonymous SNVNM_001093c.G2995Ap.V999I11.332.0E-4Yuen2017 G
ACACB     iHART2158chr12:
109629751-109629751
GTexonicPaternalstopgainNM_001093c.G2395Tp.E799X40.0-Ruzzo2019 G
ACACB     AU145Achr12:
109644616-109644616
CTexonicDe novosynonymous SNVNM_001093c.C3015Tp.N1005N-0.0365DeRubeis2014 E
Kosmicki2017 E
ACACB     ASC_CA_204_Achr12:
109683954-109683954
AGintronicDe novo--Satterstrom2020 E
ACACB     1-0757-003chr12:
109643725-109643725
GAintronicDe novo--Yuen2017 G
ACACB     1-0935-003chr12:
109644607-109644607
CAexonicDe novononsynonymous SNVNM_001093c.C3006Ap.N1002K2.441-Yuen2017 G
ACACB     14574.p1chr12:
109625794-109625794
CTintronicDe novo-8.348E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ACACB     14135.p1chr12:
109677728-109677728
CTexonicDe novononsynonymous SNVNM_001093c.C4756Tp.R1586C26.54.946E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
ACACB     7-0167-003chr12:
109578380-109578380
TGintronicDe novo--Yuen2017 G
ACACB     ASC_CA_179_Achr12:
109614036-109614036
AGexonicDe novononsynonymous SNVNM_001093c.A1405Gp.S469G14.85-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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