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Results for "ARNT"

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
ARNT     12741.p1chr1:
150789281-150789281
CAexonicDe novosynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.G1740T
c.G1740T
c.G1785T
c.G1785T
c.G1743T
p.R580R
p.R580R
p.R595R
p.R595R
p.R581R
--Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
ARNT     1-0352-003chr1:
150820883-150820883
GCintronicDe novo--Yuen2016 G
ARNT     MT_74.3chr1:
150798266-150798266
AGintronicDe novo--Trost2022 G
ARNT     1-0352-005chr1:
150820883-150820883
GCintronicDe novo--Trost2022 G
Yuen2017 G
ARNT     1-0539-003chr1:
150851406-150851406
GAintergenicDe novo--Yuen2017 G
ARNT     2-0135-003chr1:
150873958-150873958
TCintergenicDe novo--Yuen2017 G
ARNT     Lim2017:6300chr1:
150789281-150789281
CAexonicDe novosynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.G1740T
c.G1740T
c.G1785T
c.G1785T
c.G1743T
p.R580R
p.R580R
p.R595R
p.R595R
p.R581R
--Lim2017 E
ARNT     SP0125480chr1:
150786685-150786685
GAexonicDe novononsynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.C1933T
c.C1936T
c.C1975T
c.C1981T
c.C1939T
p.R645C
p.R646C
p.R659C
p.R661C
p.R647C
16.158.241E-6Fu2022 E
Trost2022 G
Zhou2022 GE
ARNT     MSSNG00031-004chr1:
150810391-150810391
AGintronicDe novo--Trost2022 G
ARNT     1-1221-003chr1:
150800834-150800834
TGintronicDe novo--Trost2022 G
ARNT     3-0539-000chr1:
150802399-150802399
AGexonicDe novononsynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.T968C
c.T968C
c.T1013C
c.T1013C
c.T971C
p.V323A
p.V323A
p.V338A
p.V338A
p.V324A
19.87-Trost2022 G
Zhou2022 GE
ARNT     MSSNG00153-003chr1:
150834173-150834173
AGintronicDe novo--Trost2022 G
ARNT     6300chr1:
150789281-150789281
CAexonicDe novosynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.G1740T
c.G1740T
c.G1785T
c.G1785T
c.G1743T
p.R580R
p.R580R
p.R595R
p.R595R
p.R581R
--Fu2022 E
Trost2022 G
ARNT     1-0863-003chr1:
150828595-150828595
AGintronicDe novo--Trost2022 G
Yuen2017 G
ARNT     12534.p1chr1:
150789884-150789884
CTexonicMosaic Pat.nonsynonymous SNVNM_001197325
NM_178427
NM_001286036
NM_001668
NM_001286035
c.G1486A
c.G1486A
c.G1531A
c.G1531A
c.G1489A
p.D496N
p.D496N
p.D511N
p.D511N
p.D497N
18.40.0056Dou2017 E
ARNT     1-0368-004chr1:
150856020-150856021
ACAintergenicDe novo--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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