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Results for "NAV3"

Variant Events: 79

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
NAV3     14482.p1chr12:
78979535-78979535
ACintergenicDe novo--Turner2016 G
NAV3     2-0098-003chr12:
78236120-78236120
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NAV3     AU4228302chr12:
78354863-78354863
GAintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     A4chr12:
78910635-78910635
AGintergenicDe novo--Wu2018 G
NAV3     1-0120-003chr12:
78853301-78853301
CTintergenicDe novo--Yuen2017 G
NAV3     2-1215-003chr12:
78721328-78721328
ACintergenicDe novo--Yuen2017 G
NAV3     SMHC01992s000chr12:
78360060-78360060
GAexonicDe novononsynonymous SNVNM_001024383
NM_014903
c.G466A
c.G466A
p.V156I
p.V156I
10.388.286E-6Yuan2023 E
NAV3     AU072504chr12:
79122095-79122095
CTintergenicDe novo--Yuen2017 G
NAV3     12036-1chr12:
78520819-78520819
TGintronicDe novo--Fu2022 E
NAV3     1-0051-005chr12:
79174099-79174103
AATACAintergenicDe novo--Yuen2017 G
NAV3     SP0074777chr12:
78574824-78574824
ACexonicDe novosynonymous SNVNM_014903
NM_001024383
c.A5625C
c.A5691C
p.S1875S
p.S1897S
--Fu2022 E
NAV3     2-0110-003chr12:
78788124-78788124
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NAV3     2-1508-003chr12:
78275362-78275362
CAintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     7-0068-003chr12:
78981694-78981694
GTintergenicDe novo--Yuen2017 G
NAV3     1-0274-003chr12:
79026274-79026274
ATintergenicDe novo--Yuen2017 G
NAV3     MSSNG00252-003chr12:
78251752-78251752
GAintronicDe novo--Trost2022 G
NAV3     1-1063-004chr12:
78300351-78300351
ATintronicDe novo--Trost2022 G
NAV3     2-1806-003chr12:
78232138-78232138
TAintronicDe novo--Trost2022 G
NAV3     7-0123-003chr12:
78674204-78674204
CTintergenicDe novo--Yuen2017 G
NAV3     1-0300-004chr12:
79035077-79035077
TCintergenicDe novo--Yuen2017 G
NAV3     MSSNG00258-003chr12:
78491027-78491027
TAintronicDe novo--Trost2022 G
NAV3     MSSNG00418-003chr12:
78561310-78561310
ATintronicDe novo--Trost2022 G
NAV3     7-0274-003chr12:
78456681-78456681
TAintronicDe novo--Trost2022 G
NAV3     1-0673-003chr12:
78631119-78631119
TCintergenicDe novo--Yuen2017 G
NAV3     MSSNG00329-004chr12:
78462470-78462470
ACintronicDe novo--Trost2022 G
NAV3     1-0440-003chr12:
79030121-79030121
GAintergenicDe novo--Yuen2017 G
NAV3     1-0835-003chr12:
78511138-78511143
CATATACATAintronicDe novo--Yuen2017 G
NAV3     SP0001116chr12:
78225389-78225389
TGexonicDe novononsynonymous SNVNM_001024383
NM_014903
c.T148G
c.T148G
p.S50A
p.S50A
13.25-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
NAV3     2-0296-003chr12:
78383852-78383855
TTTTATCAAintronicDe novo--Trost2022 G
NAV3     SJD_46.3chr12:
78444993-78444993
CTintronicDe novo--Trost2022 G
NAV3     2-1142-003chr12:
79202670-79202670
TCintergenicDe novo--Yuen2017 G
NAV3     5-5101-003chr12:
78311265-78311265
ATintronicDe novo--Trost2022 G
NAV3     4-0064-004chr12:
78332349-78332349
TCintronicDe novo--Trost2022 G
NAV3     2-1376-003chr12:
79146966-79146966
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NAV3     2-1485-004chr12:
78678973-78678973
GAintergenicDe novo--Yuen2017 G
NAV3     2-1091-003chr12:
78605603-78605603
GAUTR3De novo--Trost2022 G
NAV3     2-1275-003chr12:
79038738-79038738
GAintergenicDe novo--Yuen2017 G
NAV3     3-0201-000chr12:
78599370-78599370
TCintronicDe novo--Trost2022 G
NAV3     2-1166-003chr12:
78480629-78480629
GTintronicDe novo--Yuen2016 G
Yuen2017 G
NAV3     3-0201-000chr12:
78600082-78600082
AGintronicDe novo--Trost2022 G
NAV3     7-0461-003chr12:
78566480-78566480
CTintronicDe novo--Trost2022 G
NAV3     1-0139-005chr12:
79107113-79107113
GTintergenicDe novo--Yuen2017 G
NAV3     1-0627-004chr12:
78437697-78437697
ATintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     MSSNG00389-003chr12:
78586040-78586040
CAintronicDe novo--Trost2022 G
NAV3     7-0167-003chr12:
78309140-78309140
GTintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     SP0073612chr12:
78583909-78583909
CCAexonicDe novoframeshift insertionNM_014903
NM_001024383
c.6136dupA
c.6202dupA
p.N2045fs
p.N2067fs
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
NAV3     1-0995-003chr12:
78348978-78348978
TGintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     11047.p1chr12:
78400929-78400929
AGexonicDe novosynonymous SNVNM_001024383
NM_014903
c.A1611G
c.A1611G
p.V537V
p.V537V
--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
NAV3     2-1374-003chr12:
78295639-78295639
AGintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     AU4235301chr12:
79196752-79196752
ACintergenicDe novo--Yuen2017 G
NAV3     12363.p1chr12:
78511923-78511923
GTexonicMosaic, De novononsynonymous SNVNM_001024383
NM_014903
c.G2886T
c.G2886T
p.K962N
p.K962N
12.4-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
NAV3     2-1645-003chr12:
78616177-78616177
TGintergenicDe novo--Yuen2017 G
NAV3     2-1242-003chr12:
79195328-79195328
ATintergenicDe novo--Yuen2016 G
NAV3     AU031003chr12:
78933418-78933418
GAintergenicDe novo--Yuen2017 G
NAV3     7-0222-003chr12:
78609019-78609019
CTintergenicDe novo--Yuen2017 G
NAV3     11047_p1chr12:
78400929-78400929
AGexonicDe novosynonymous SNVNM_001024383
NM_014903
c.A1611G
c.A1611G
p.V537V
p.V537V
--Fu2022 E
NAV3     1-0075-003chr12:
78615228-78615228
AGintergenicDe novo--Yuen2017 G
NAV3     2-1485-003chr12:
78678973-78678973
GAintergenicDe novo--Yuen2017 G
NAV3     2-1402-003chr12:
79085211-79085211
CTintergenicDe novo--Yuen2017 G
NAV3     SP0174019chr12:
78362352-78362352
CTexonicnonsynonymous SNVNM_001024383
NM_014903
c.C541T
c.C541T
p.R181C
p.R181C
18.79-Zhou2022 GE
NAV3     SSC05299chr12:
78511923-78511923
GTexonicMosaic, De novononsynonymous SNVNM_001024383
NM_014903
c.G2886T
c.G2886T
p.K962N
p.K962N
12.4-Lim2017 E
Trost2022 G
NAV3     AU4153301 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
NAV3     AU062204chr12:
78645468-78645468
GAintergenicDe novo--Yuen2017 G
NAV3     1-0073-003chr12:
78672207-78672207
CTintergenicDe novo--Yuen2017 G
NAV3     iHART1334chr12:
78444584-78444584
GCexonicDe novononsynonymous SNVNM_001024383
NM_014903
c.G2173C
c.G2173C
p.V725L
p.V725L
33.0-Ruzzo2019 G
NAV3     2-1436-003chr12:
79044348-79044348
ACintergenicDe novo--Yuen2017 G
NAV3     7-0247-003chr12:
78265845-78265845
CTintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     AU031203chr12:
79054686-79054686
AGintergenicDe novo--Yuen2017 G
NAV3     AU3911302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
NAV3     AU4435301chr12:
78604518-78604518
TGUTR3De novo--Trost2022 G
Yuen2017 G
NAV3     AU3839303chr12:
78827967-78827967
CTintergenicDe novo--Yuen2017 G
NAV3     1-0994-003chr12:
79096923-79096923
ACintergenicDe novo--Yuen2017 G
NAV3     2-1421-003chr12:
78325524-78325536
GTAGTCCCAGCTAGTAintronicDe novo--Yuen2017 G
NAV3     1-0381-003chr12:
78285428-78285428
CTintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     1-0259-005chr12:
78819374-78819374
CAintergenicDe novo--Yuen2017 G
NAV3     1-0305-004chr12:
78504392-78504392
AGintronicDe novo--Trost2022 G
Yuen2017 G
NAV3     1-0274-004chr12:
79026274-79026274
ATintergenicDe novo--Yuen2017 G
NAV3     12498.p1chr12:
78635236-78635236
CAintergenicDe novo--Turner2016 G
NAV3     mAGRE1334chr12:
78444584-78444584
GCexonicDe novononsynonymous SNVNM_001024383
NM_014903
c.G2173C
c.G2173C
p.V725L
p.V725L
33.0-Cirnigliaro2023 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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