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Results for "NPAS3"

Variant Events: 100

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     1-0772-003chr14:
34014051-34014051
TAintronicDe novo--Trost2022 G
NPAS3     1-0589-003chr14:
34032651-34032651
TCintronicDe novo--Trost2022 G
NPAS3     MSSNG00343-004chr14:
34003320-34003320
GTintronicDe novo--Trost2022 G
NPAS3     1-0772-003chr14:
34014049-34014049
TAintronicDe novo--Trost2022 G
NPAS3     7-0442-003chr14:
33853145-33853145
TCintronicDe novo--Trost2022 G
NPAS3     MT_38.3chr14:
33914082-33914082
GAintronicDe novo--Trost2022 G
NPAS3     5-1012-004chr14:
33833459-33833459
AGintronicDe novo--Trost2022 G
NPAS3     1-0153-004Achr14:
33843922-33843922
TGintronicDe novo--Trost2022 G
NPAS3     MSSNG00045-004chr14:
34193465-34193465
AGintronicDe novo--Trost2022 G
NPAS3     7-0119-003chr14:
34201439-34201439
GGCAintronicDe novo--Trost2022 G
NPAS3     REACH000435chr14:
34151242-34151242
GAintronicDe novo--Trost2022 G
NPAS3     3-0405-000chr14:
34165715-34165715
CTintronicDe novo--Trost2022 G
NPAS3     2-1723-003chr14:
34122111-34122111
GAintronicDe novo--Trost2022 G
NPAS3     2-1753-003chr14:
34143839-34143839
AGintronicDe novo--Trost2022 G
NPAS3     7-0198-003chr14:
34058244-34058244
ATintronicDe novo--Trost2022 G
NPAS3     REACH000214chr14:
34112679-34112679
AGintronicDe novo--Trost2022 G
NPAS3     5-5046-003chr14:
34272126-34272126
CTUTR3De novo--Trost2022 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
Zhou2022 GE
NPAS3     3-0541-000Achr14:
34250414-34250414
AGintronicDe novo--Trost2022 G
NPAS3     SP0223137chr14:
34266682-34266682
ATexonicDe novononsynonymous SNVNM_001165893
NM_022123
NM_001164749
NM_173159
c.A1231T
c.A1225T
c.A1321T
c.A1282T
p.T411S
p.T409S
p.T441S
p.T428S
18.5-Trost2022 G
NPAS3     MSSNG00037-003chr14:
34219182-34219182
CTintronicDe novo--Trost2022 G
NPAS3     5-0050-004chr14:
34239281-34239281
TTAintronicDe novo--Trost2022 G
NPAS3     1-0305-004chr14:
34215339-34215340
CCTTintronicDe novo--Trost2022 G
NPAS3     AU0540302chr14:
34215457-34215457
CTintronicDe novo--Trost2022 G
NPAS3     1-0871-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
NPAS3     1-0387-003chr14:
34219925-34219925
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     7-0255-003chr14:
33641298-33641298
CTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0139-003chr14:
33893926-33893926
ATintronicDe novo--Yuen2017 G
NPAS3     AU4283301chr14:
34216829-34216829
GTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0290-003chr14:
33757823-33757823
AGintronicDe novo--Yuen2017 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--Trost2022 G
Yuen2017 G
NPAS3     1-0965-003chr14:
33793994-33793994
GTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1296-003chr14:
34124745-34124745
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1374-003chr14:
34058221-34058221
GTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     AU002903chr14:
33660052-33660052
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     74-0117chr14:
34079789-34079789
ATintronicDe novo--Michaelson2012 G
NPAS3     2-1222-003chr14:
33766904-33766904
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NPAS3     1-0394-003chr14:
33918625-33918625
AGintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     74-0265chr14:
33486058-33486058
CAintronicDe novo--Michaelson2012 G
NPAS3     AU038204chr14:
34221647-34221647
AGintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     AU3779301chr14:
33720642-33720642
TAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0547-003chr14:
33980216-33980216
CTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1368-003chr14:
33914532-33914532
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     AU1940304chr14:
33685560-33685560
TCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1702-004chr14:
33546547-33546547
TCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1399-003chr14:
33804644-33804644
TCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0022-003chr14:
33474804-33474804
ATintronicDe novo--Yuen2016 G
NPAS3     2-1337-003chr14:
34240921-34240921
GCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0022-004chr14:
33474804-33474804
ATintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0218-004chr14:
33876870-33876870
CTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0651-003chr14:
33834676-33834676
TGintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1359-003chr14:
33507046-33507046
TCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     5-0018-003chr14:
34382727-34382727
GTintergenicDe novo--Yuen2017 G
NPAS3     1-0190-003chr14:
34087839-34087839
GTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     ASC_11387-1chr14:
33836406-33836406
CTexonicDe novostopgainNM_001165893
NM_022123
NM_001164749
NM_173159
c.C310T
c.C304T
c.C400T
c.C361T
p.R104X
p.R102X
p.R134X
p.R121X
37.0-Fu2022 E
NPAS3     AU3997301chr14:
34034845-34034845
AGintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1314-003chr14:
34199806-34199806
CTintronicDe novo--Yuen2016 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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NPAS3     13539.p1chr14:
33652677-33652677
CTintronicDe novo--Turner2016 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--Trost2022 G
Yuen2017 G
NPAS3     2-1620-004chr14:
33675224-33675224
TCintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1398-003chr14:
33730936-33730936
AGintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     AU4149301chr14:
34364382-34364382
GAintergenicDe novo--Yuen2017 G
NPAS3     AU1952305chr14:
34117214-34117214
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-0028-003chr14:
34320860-34320860
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NPAS3     2-1116-003chr14:
33625726-33625726
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NPAS3     AU4089301chr14:
33977610-33977610
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     1-0628-003chr14:
33445461-33445461
GTintronicDe novo--Trost2022 G
NPAS3     1-0180-004chr14:
33755542-33755542
CTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-1757-003chr14:
33492457-33492457
GCintronicDe novo--Trost2022 G
NPAS3     1-1161-003chr14:
33408913-33408913
GCintronicDe novo--Trost2022 G
NPAS3     1-1223-003chr14:
33432271-33432271
TCintronicDe novo--Trost2022 G
NPAS3     1-0269-005chr14:
33741625-33741625
TCintronicDe novo--Yuen2017 G
NPAS3     1-0947-003chr14:
33641444-33641444
TCintronicDe novo--Trost2022 G
NPAS3     3-0774-000Achr14:
33659986-33659986
AGintronicDe novo--Trost2022 G
NPAS3     MT_19.3chr14:
33603196-33603196
CTintronicDe novo--Trost2022 G
NPAS3     MT_156.3chr14:
33613016-33613016
CTintronicDe novo--Trost2022 G
NPAS3     1-0627-003chr14:
34328419-34328419
AGintergenicDe novo--Yuen2017 G
NPAS3     AU059003chr14:
33531438-33531438
ATintronicDe novo--Trost2022 G
NPAS3     MSSNG00239-003chr14:
33561708-33561708
GAintronicDe novo--Trost2022 G
NPAS3     2-1491-003chr14:
33493523-33493523
GAintronicDe novo--Trost2022 G
NPAS3     1-0654-003chr14:
33523980-33523980
GAintronicDe novo--Trost2022 G
NPAS3     MSSNG00404-003chr14:
33782697-33782697
GAintronicDe novo--Trost2022 G
NPAS3     3-0713-000chr14:
33799028-33799028
GTintronicDe novo--Trost2022 G
NPAS3     AU3190305chr14:
33796089-33796089
GAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     3-0287-000chr14:
33732540-33732540
GAintronicDe novo--Trost2022 G
NPAS3     AU079605chr14:
34036690-34036690
CTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     2-0103-003chr14:
33779043-33779043
GAintronicDe novo--Trost2022 G
NPAS3     AU4013303chr14:
33429973-33429973
GTintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     3-0109-000chr14:
33695836-33695836
ATintronicDe novo--Trost2022 G
NPAS3     2-1740-003chr14:
33718847-33718847
AGintronicDe novo--Trost2022 G
NPAS3     MSSNG00355-003chr14:
33672683-33672683
ACintronicDe novo--Trost2022 G
NPAS3     AU3779304chr14:
33833987-33833987
CAintronicDe novo--Trost2022 G
Yuen2017 G
NPAS3     MT_40.3chr14:
33695002-33695002
TCintronicDe novo--Trost2022 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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