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Results for "ACOT11"

Variant Events: 8

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
ACOT11     NDAR_INVLT014TFN_wes1chr1:
55060359-55060359
AGexonicDe novononsynonymous SNVNM_015547
NM_147161
c.A602G
c.A602G
p.Q201R
p.Q201R
13.01-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ACOT11     DEASD_1018_001chr1:
55062979-55062979
CTexonicDe novononsynonymous SNVNM_015547
NM_147161
c.C655T
c.C655T
p.R219C
p.R219C
11.668.322E-6Satterstrom2020 E
ACOT11     5-0042-003chr1:
55046916-55046916
TCintronicDe novo--Yuen2017 G
ACOT11     AU066404chr1:
55051667-55051667
GAintronicDe novo--Yuen2017 G
ACOT11     2-0270-003chr1:
55024343-55024343
GTintronicDe novo--Yuen2017 G
ACOT11     Cukier2014:17342chr1:
55050353-55050353
GAexonicUnknownnonsynonymous SNVNM_015547
NM_147161
c.G59A
c.G59A
p.R20H
p.R20H
19.240.0187Cukier2014 E
ACOT11     1-0448-003chr1:
55014815-55014815
CTintronicDe novo--Yuen2017 G
ACOT11     AU4263304chr1:
55060300-55060300
GAexonicDe novosynonymous SNVNM_015547
NM_147161
c.G543A
c.G543A
p.R181R
p.R181R
--Yuen2017 G
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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