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Results for "ARNTL"

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
ARNTL     AU2123301chr11:
13379288-13379288
GAintronicDe novo--Yuen2017 G
ARNTL     5-0055-004chr11:
13332128-13332128
CTintronicDe novo--Yuen2017 G
ARNTL     20618-32410chr11:
13387084-13387084
GAexonicInheritednonsynonymous SNVNM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724
c.G497A
c.G497A
c.G368A
c.G497A
c.G497A
c.G368A
p.R166Q
p.R166Q
p.R123Q
p.R166Q
p.R166Q
p.R123Q
36.0-Callaghan2019 G
ARNTL     AU4263304chr11:
13399902-13399906
ACCCCACCCCCexonicDe novoframeshift insertionNM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724
c.1434dupC
c.1437dupC
c.1305dupC
c.1434dupC
c.1437dupC
c.1308dupC
p.P478fs
p.P479fs
p.P435fs
p.P478fs
p.P479fs
p.P436fs
--Yuen2017 G
ARNTL     1-0255-003chr11:
13374133-13374133
AGintronicDe novo--Yuen2016 G
Yuen2017 G
ARNTL     AU061104chr11:
13345433-13345433
GCintronicDe novo--Yuen2017 G
ARNTL     2-1093-005chr11:
13310258-13310258
CTintronicDe novo--Yuen2017 G
ARNTL     iHART1121chr11:
13387083-13387083
CTexonicMaternalstopgainNM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724
c.C496T
c.C496T
c.C367T
c.C496T
c.C496T
c.C367T
p.R166X
p.R166X
p.R123X
p.R166X
p.R166X
p.R123X
41.0-Ruzzo2019 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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