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Results for "NPAS3"

Variant Events: 56

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
NPAS3     1-0022-003chr14:
33474804-33474804
ATintronicDe novo--Yuen2016 G
NPAS3     10C101853chr14:
34269619-34269619
CGexonicDe novosynonymous SNVNM_001165893
NM_022123
NM_001164749
NM_173159
c.C2016G
c.C2010G
c.C2106G
c.C2067G
p.G672G
p.G670G
p.G702G
p.G689G
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
NPAS3     2-1337-003chr14:
34240921-34240921
GCintronicDe novo--Yuen2017 G
NPAS3     1-0022-004chr14:
33474804-33474804
ATintronicDe novo--Yuen2017 G
NPAS3     1-0871-003chr14:
34202162-34202166
GAAAAGAAAAAintronicDe novo--Yuen2017 G
NPAS3     1-0218-004chr14:
33876870-33876870
CTintronicDe novo--Yuen2017 G
NPAS3     1-0387-003chr14:
34219925-34219925
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     1-0651-003chr14:
33834676-33834676
TGintronicDe novo--Yuen2017 G
NPAS3     7-0255-003chr14:
33641298-33641298
CTintronicDe novo--Yuen2017 G
NPAS3     1-0139-003chr14:
33893926-33893926
ATintronicDe novo--Yuen2017 G
NPAS3     2-1359-003chr14:
33507046-33507046
TCintronicDe novo--Yuen2017 G
NPAS3     5-0018-003chr14:
34382727-34382727
GTintergenicDe novo--Yuen2017 G
NPAS3     AU4283301chr14:
34216829-34216829
GTintronicDe novo--Yuen2017 G
NPAS3     1-0290-003chr14:
33757823-33757823
AGintronicDe novo--Yuen2017 G
NPAS3     1-0190-003chr14:
34087839-34087839
GTintronicDe novo--Yuen2017 G
NPAS3     AU3997301chr14:
34034845-34034845
AGintronicDe novo--Yuen2017 G
NPAS3     2-1314-003chr14:
34199806-34199806
CTintronicDe novo--Yuen2016 G
NPAS3     A9chr14:
33514936-33514936
TCintronicDe novo--Wu2018 G
NPAS3     1-0265-004chr14:
33577239-33577239
GTintronicDe novo--Yuen2017 G
NPAS3     AU2019302chr14:
34019528-34019528
TCintronicDe novo--Yuen2017 G
NPAS3     14462.p1chr14:
34269092-34269092
GAexonicMosaicnonsynonymous SNVNM_001165893
NM_022123
NM_001164749
NM_173159
c.G1489A
c.G1483A
c.G1579A
c.G1540A
p.D497N
p.D495N
p.D527N
p.D514N
20.63.362E-5Dou2017 E
NPAS3     2J035chr14:
34243576-34243576
GAexonicDe novononsynonymous SNVNM_001165893
NM_022123
NM_001164749
NM_173159
c.G796A
c.G790A
c.G886A
c.G847A
p.V266M
p.V264M
p.V296M
p.V283M
13.37-Satterstrom2020 E
NPAS3     1-0965-003chr14:
33793994-33793994
GTintronicDe novo--Yuen2017 G
NPAS3     2-1296-003chr14:
34124745-34124745
GAintronicDe novo--Yuen2017 G
NPAS3     13539.p1chr14:
33652677-33652677
CTintronicDe novo--Turner2016 G
NPAS3     2-1374-003chr14:
34058221-34058221
GTintronicDe novo--Yuen2017 G
NPAS3     2-0132-004chr14:
34350161-34350161
TCintergenicDe novo--Yuen2017 G
NPAS3     2-1178-003chr14:
33455513-33455513
TCintronicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     1-0745-003chr14:
33733486-33733486
GCintronicDe novo--Yuen2017 G
NPAS3     2-1408-004chr14:
33846029-33846029
TAintronicDe novo--Yuen2017 G
NPAS3     2-1620-004chr14:
33675224-33675224
TCintronicDe novo--Yuen2017 G
NPAS3     AU002903chr14:
33660052-33660052
GAintronicDe novo--Yuen2017 G
NPAS3     2-1398-003chr14:
33730936-33730936
AGintronicDe novo--Yuen2017 G
NPAS3     AU4149301chr14:
34364382-34364382
GAintergenicDe novo--Yuen2017 G
NPAS3     AU1952305chr14:
34117214-34117214
GAintronicDe novo--Yuen2017 G
NPAS3     74-0117chr14:
34079789-34079789
ATintronicDe novo--Michaelson2012 G
NPAS3     2-0028-003chr14:
34320860-34320860
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     2-1222-003chr14:
33766904-33766904
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     1-0394-003chr14:
33918625-33918625
AGintronicDe novo--Yuen2017 G
NPAS3     74-0265chr14:
33486058-33486058
CAintronicDe novo--Michaelson2012 G
NPAS3     2-1116-003chr14:
33625726-33625726
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     AU038204chr14:
34221647-34221647
AGintronicDe novo--Yuen2017 G
NPAS3     AU4089301chr14:
33977610-33977610
GAintronicDe novo--Yuen2017 G
NPAS3     1-0180-004chr14:
33755542-33755542
CTintronicDe novo--Yuen2017 G
NPAS3     AU3779301chr14:
33720642-33720642
TAintronicDe novo--Yuen2017 G
NPAS3     1-0547-003chr14:
33980216-33980216
CTintronicDe novo--Yuen2017 G
NPAS3     1-0269-005chr14:
33741625-33741625
TCintronicDe novo--Yuen2017 G
NPAS3     2-1368-003chr14:
33914532-33914532
GAintronicDe novo--Yuen2017 G
NPAS3     1-0627-003chr14:
34328419-34328419
AGintergenicDe novo--Yuen2017 G
NPAS3     AU1940304chr14:
33685560-33685560
TCintronicDe novo--Yuen2017 G
NPAS3     2-1702-004chr14:
33546547-33546547
TCintronicDe novo--Yuen2017 G
NPAS3     AU3190305chr14:
33796089-33796089
GAintronicDe novo--Yuen2017 G
NPAS3     AU079605chr14:
34036690-34036690
CTintronicDe novo--Yuen2017 G
NPAS3     AU4013303chr14:
33429973-33429973
GTintronicDe novo--Yuen2017 G
NPAS3     2-1399-003chr14:
33804644-33804644
TCintronicDe novo--Yuen2017 G
NPAS3     AU3779304chr14:
33833987-33833987
CAintronicDe 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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