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Results for "NAV2"

Variant Events: 88

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
NAV2     1-0175-004chr11:
20075508-20075508
TTAintronicDe novo--Yuen2017 G
NAV2     2-0013-003chr11:
19646061-19646061
GGCAGTintronicDe novo--Yuen2017 G
NAV2     AU4250301chr11:
19380653-19380653
GCintronicDe novo--Yuen2017 G
NAV2     1-0526-003chr11:
19826220-19826224
CATCTCintronicDe novo--Yuen2017 G
NAV2     220-9924-201chr11:
19854142-19854142
TAexonicUnknownnonsynonymous SNVNM_001111018
NM_001244963
NM_145117
NM_182964
c.T188A
c.T380A
c.T380A
c.T380A
p.V63D
p.V127D
p.V127D
p.V127D
27.41.648E-5Stessman2017 T
NAV2     5-0087-003chr11:
20033343-20033343
CTintronicDe novo--Yuen2017 G
NAV2     C5V2Nchr11:
20065608-20065608
GAexonicInheritednonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G247A
c.G2797A
c.G2989A
c.G2989A
c.G3058A
p.D83N
p.D933N
p.D997N
p.D997N
p.D1020N
31.0-Stessman2017 T
NAV2     2-1267-003chr11:
19921834-19921834
TGintronicDe novo--Yuen2017 G
NAV2     2-1342-003chr11:
19705235-19705235
GAintronicDe novo--Yuen2017 G
NAV2     1-0051-005chr11:
20049433-20049433
AGintronicDe novo--Yuen2017 G
NAV2     NP053chr11:
19854079-19854079
GAexonicDe novononsynonymous SNVNM_001111018
NM_001244963
NM_145117
NM_182964
c.G125A
c.G317A
c.G317A
c.G317A
p.R42H
p.R106H
p.R106H
p.R106H
19.924.942E-5Fu2022 E
Lim2017 E
Satterstrom2020 E
NAV2     12568.p1chr11:
19795024-19795024
GAintronicDe novo--Turner2016 G
NAV2     2-1360-003chr11:
19665689-19665689
TCintronicDe novo--Yuen2016 G
Yuen2017 G
NAV2     5-0077-004chr11:
19805450-19805453
ATCTAintronicDe novo--Yuen2017 G
NAV2     E5B6Ychr11:
20122617-20122617
TCexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.T3508C
c.T6124C
c.T6316C
c.T6325C
c.T6493C
p.Y1170H
p.Y2042H
p.Y2106H
p.Y2109H
p.Y2165H
28.71.0E-4Stessman2017 T
NAV2     1-0184-003chr11:
19409065-19409065
CGintronicDe novo--Yuen2017 G
NAV2     AU1933302chr11:
20159950-20159950
GAintergenicDe novo--Yuen2017 G
NAV2     AU3702307chr11:
19642599-19642599
CTintronicDe novo--Yuen2017 G
NAV2     GX0078.p1chr11:
19970353-19970353
GAexonicMaternalnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.G2180A
c.G2372A
c.G2372A
c.G2441A
p.R727Q
p.R791Q
p.R791Q
p.R814Q
36.01.651E-5Guo2018 T
NAV2     1-0353-003chr11:
19453830-19453830
CTintronicDe novo--Yuen2017 G
NAV2     SP0039557chr11:
20044285-20044285
CTUTR5De novo--Fu2022 E
NAV2     AU4032305chr11:
19731343-19731343
ATintronicDe novo--Yuen2017 G
NAV2     1-0395-004chr11:
19877040-19877040
TGintronicDe novo--Yuen2017 G
NAV2     SP0045525chr11:
19955533-19955533
GAexonicDe novosynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.G1551A
c.G1743A
c.G1743A
c.G1812A
p.A517A
p.A581A
p.A581A
p.A604A
--Fu2022 E
NAV2     AU016403chr11:
19961215-19961215
CTexonicUnknownnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C1850T
c.C2042T
c.C2042T
c.C2111T
p.T617M
p.T681M
p.T681M
p.T704M
19.085.001E-5Stessman2017 T
NAV2     1-0344-003chr11:
19866143-19866143
GAintronicDe novo--Yuen2017 G
NAV2     13948.p1chr11:
19572788-19572788
GAintronicDe novo--Wilfert2021 G
NAV2     03C15772chr11:
19954865-19954865
CTexonicUnknownnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C883T
c.C1075T
c.C1075T
c.C1144T
p.R295C
p.R359C
p.R359C
p.R382C
18.628.398E-6Stessman2017 T
NAV2     2-1353-003chr11:
19661880-19661880
GAintronicDe novo--Yuen2017 G
NAV2     1-0153-004chr11:
19449958-19449958
TAintronicDe novo--Yuen2017 G
NAV2     M01623chr11:
20067213-20067213
GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G1157A
c.G3707A
c.G3899A
c.G3899A
c.G3968A
p.R386H
p.R1236H
p.R1300H
p.R1300H
p.R1323H
33.01.0E-4Wang2016 T
NAV2     M23133chr11:
20136247-20136247
GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G4262A
c.G6878A
c.G7070A
c.G7079A
c.G7247A
p.R1421Q
p.R2293Q
p.R2357Q
p.R2360Q
p.R2416Q
35.04.166E-5Guo2018 T
Stessman2017 T
Wang2016 T
NAV2     M16180chr11:
19735260-19735260
GAexonicUnknownnonsynonymous SNVNM_001244963
NM_145117
NM_182964
c.G19A
c.G19A
c.G19A
p.A7T
p.A7T
p.A7T
26.5-Stessman2017 T
NAV2     217-14011-210chr11:
20101720-20101720
GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G2482A
c.G5098A
c.G5290A
c.G5290A
c.G5458A
p.E828K
p.E1700K
p.E1764K
p.E1764K
p.E1820K
31.01.653E-5Stessman2017 T
NAV2     M17623chr11:
20065735-20065735
GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G374A
c.G2924A
c.G3116A
c.G3116A
c.G3185A
p.R125Q
p.R975Q
p.R1039Q
p.R1039Q
p.R1062Q
36.01.0E-4Guo2018 T
Wang2016 T
NAV2     1-0395-003chr11:
19877040-19877040
TGintronicDe novo--Yuen2017 G
NAV2     AU4215302chr11:
19848215-19848215
AGintronicDe novo--Yuen2017 G
NAV2     1-0024-003chr11:
19651270-19651270
GCintronicDe novo--Yuen2017 G
NAV2     2-1429-004chr11:
19627220-19627226
GGCAGCCGintronicDe novo--Yuen2017 G
NAV2     5-0030-003chr11:
19921834-19921834
TGintronicDe novo--Yuen2017 G
NAV2     2-0286-004chr11:
19397588-19397588
CGintronicDe novo--Yuen2017 G
NAV2     03C16818chr11:
19967973-19967973
CTexonicUnknownnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C1981T
c.C2173T
c.C2173T
c.C2242T
p.R661W
p.R725W
p.R725W
p.R748W
24.21.747E-5Stessman2017 T
NAV2     M19541chr11:
20057533-20057533
GAexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G55A
c.G2605A
c.G2797A
c.G2797A
c.G2866A
p.G19S
p.G869S
p.G933S
p.G933S
p.G956S
28.24.946E-5Stessman2017 T
NAV2     217-14152-2510chr11:
19854078-19854078
CTexonicUnknownnonsynonymous SNVNM_001111018
NM_001244963
NM_145117
NM_182964
c.C124T
c.C316T
c.C316T
c.C316T
p.R42C
p.R106C
p.R106C
p.R106C
28.01.647E-5Stessman2017 T
NAV2     SSC04233chr11:
20139742-20139742
GAexonicDe novononsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G4420A
c.G7036A
c.G7228A
c.G7237A
c.G7405A
p.D1474N
p.D2346N
p.D2410N
p.D2413N
p.D2469N
26.38.239E-6Fu2022 E
NAV2     AU057404chr11:
19858909-19858909
CTintronicDe novo--Yuen2017 G
NAV2     SSC04885chr11:
19914032-19914032
CTexonicDe novononsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C631T
c.C823T
c.C823T
c.C892T
p.R211C
p.R275C
p.R275C
p.R298C
20.17.428E-5Fu2022 E
NAV2     5-0014-003chr11:
19549169-19549169
CAintronicDe novo--Yuen2017 G
NAV2     Lim2017:37434chr11:
20117286-20117286
CTexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3177T
c.C5793T
c.C5985T
c.C5994T
c.C6162T
p.L1059L
p.L1931L
p.L1995L
p.L1998L
p.L2054L
-2.471E-5Lim2017 E
NAV2     AU0922301chr11:
20065731-20065731
CTexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C370T
c.C2920T
c.C3112T
c.C3112T
c.C3181T
p.R124W
p.R974W
p.R1038W
p.R1038W
p.R1061W
20.62.474E-5Stessman2017 T
NAV2     1-0271-003chr11:
19921834-19921834
TGintronicDe novo--Yuen2017 G
NAV2     37434chr11:
20117286-20117286
CTexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3177T
c.C5793T
c.C5985T
c.C5994T
c.C6162T
p.L1059L
p.L1931L
p.L1995L
p.L1998L
p.L2054L
-2.471E-5Fu2022 E
NAV2     11397_p1chr11:
20057523-20057523
CAexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C45A
c.C2595A
c.C2787A
c.C2787A
c.C2856A
p.S15S
p.S865S
p.S929S
p.S929S
p.S952S
--Fu2022 E
NAV2     M19652chr11:
20077419-20077419
CTexonicMaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C1939T
c.C4555T
c.C4747T
c.C4747T
c.C4816T
p.R647C
p.R1519C
p.R1583C
p.R1583C
p.R1606C
31.08.239E-6Guo2018 T
Wang2016 T
NAV2     2-1461-003chr11:
19767441-19767441
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NAV2     80001103246chr11:
19901474-19901477
AAGCAexonicDe novononframeshift deletionNM_001111018
NM_001244963
NM_145117
NM_182964
c.380_382del
c.572_574del
c.572_574del
c.572_574del
p.127_128del
p.191_192del
p.191_192del
p.191_192del
-4.134E-5Fu2022 E
NAV2     2-1341-004chr11:
19714821-19714821
GAintronicDe novo--Yuen2017 G
NAV2     1-0595-005chr11:
19427726-19427726
GAintronicDe novo--Yuen2017 G
NAV2     12389.p1chr11:
19914032-19914032
CTexonicDe novononsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C631T
c.C823T
c.C823T
c.C892T
p.R211C
p.R275C
p.R275C
p.R298C
20.17.428E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
NAV2     11397.p1chr11:
20057523-20057523
CAexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C45A
c.C2595A
c.C2787A
c.C2787A
c.C2856A
p.S15S
p.S865S
p.S929S
p.S929S
p.S952S
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NAV2     14179.p1chr11:
20104534-20104534
GCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NAV2     1-0460-003chr11:
19673928-19673928
AGintronicDe novo--Yuen2017 G
NAV2     14604.p1chr11:
20117286-20117286
CTexonicDe novosynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3177T
c.C5793T
c.C5985T
c.C5994T
c.C6162T
p.L1059L
p.L1931L
p.L1995L
p.L1998L
p.L2054L
-2.471E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NAV2     217-14311-4280chr11:
20119127-20119127
AGexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.A3209G
c.A5825G
c.A6017G
c.A6026G
c.A6194G
p.Y1070C
p.Y1942C
p.Y2006C
p.Y2009C
p.Y2065C
23.8-Stessman2017 T
NAV2     AU038204chr11:
19783901-19783901
CTintronicDe novo--Yuen2017 G
NAV2     11459.p1chr11:
20119143-20119143
CTexonicDe novo, Mosaicsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3225T
c.C5841T
c.C6033T
c.C6042T
c.C6210T
p.D1075D
p.D1947D
p.D2011D
p.D2014D
p.D2070D
--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
NAV2     12241.p1chr11:
20139742-20139742
GAexonicDe novononsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G4420A
c.G7036A
c.G7228A
c.G7237A
c.G7405A
p.D1474N
p.D2346N
p.D2410N
p.D2413N
p.D2469N
26.38.239E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
NAV2     217-14357-4710chr11:
20119268-20119268
CTexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3350T
c.C5966T
c.C6158T
c.C6167T
c.C6335T
p.T1117M
p.T1989M
p.T2053M
p.T2056M
p.T2112M
16.873.337E-5Stessman2017 T
NAV2     2-0003-003chr11:
19919379-19919379
GCintronicDe novo--Yuen2017 G
NAV2     AU066206chr11:
19513411-19513411
CAintronicDe novo--Yuen2017 G
NAV2     AU066206chr11:
19592597-19592597
ATintronicDe novo--Yuen2017 G
NAV2     AU1400301chr11:
19970374-19970374
CAexonicUnknownnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.C2201A
c.C2393A
c.C2393A
c.C2462A
p.P734H
p.P798H
p.P798H
p.P821H
27.2-Stessman2017 T
NAV2     AU0638302chr11:
19561796-19561796
CAintronicDe novo--Yuen2017 G
NAV2     219-2275-1chr11:
20127168-20127168
CTexonicUnknownnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3928T
c.C6544T
c.C6736T
c.C6745T
c.C6913T
p.R1310W
p.R2182W
p.R2246W
p.R2249W
p.R2305W
14.092.471E-5Stessman2017 T
NAV2     7-0077-003chr11:
19618559-19618559
CGintronicDe novo--Yuen2017 G
NAV2     1-0112-003chr11:
19921834-19921834
TGintronicDe novo--Yuen2017 G
NAV2     1-0757-003chr11:
19758476-19758476
ACintronicDe novo--Yuen2017 G
NAV2     1-0043-003chr11:
20167722-20167722
CTintergenicDe novo--Yuen2017 G
NAV2     2-1143-003chr11:
19784082-19784082
TCintronicDe novo--Yuen2017 G
NAV2     3-0307-000chr11:
19405148-19405148
GAintronicDe novo--Yuen2017 G
NAV2     1-0756-005chr11:
20021065-20021065
CTintronicDe novo--Yuen2017 G
NAV2     M21717chr11:
19970605-19970605
GAexonicMaternalnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.G2432A
c.G2624A
c.G2624A
c.G2693A
p.R811Q
p.R875Q
p.R875Q
p.R898Q
34.01.0E-4Wang2016 T
NAV2     M08710chr11:
20099182-20099182
GAsplicingUnknownsplicing21.0-Guo2018 T
Wang2016 T
NAV2     M26848chr11:
20067213-20067213
GAexonicMaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.G1157A
c.G3707A
c.G3899A
c.G3899A
c.G3968A
p.R386H
p.R1236H
p.R1300H
p.R1300H
p.R1323H
33.01.0E-4Wang2016 T
NAV2     AU3586303chr11:
19747426-19747426
CGintronicDe novo--Yuen2017 G
NAV2     220-9814-202chr11:
19890528-19890528
GCexonicUnknownnonsynonymous SNVNM_001111018
NM_001244963
NM_145117
NM_182964
c.G304C
c.G496C
c.G496C
c.G496C
p.G102R
p.G166R
p.G166R
p.G166R
22.8-Stessman2017 T
NAV2     M26778chr11:
19970605-19970605
GAexonicMaternalnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963
c.G2432A
c.G2624A
c.G2624A
c.G2693A
p.R811Q
p.R875Q
p.R875Q
p.R898Q
34.01.0E-4Wang2016 T
NAV2     M26826chr11:
20125237-20125237
CTexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963
c.C3803T
c.C6419T
c.C6611T
c.C6620T
c.C6788T
p.S1268L
p.S2140L
p.S2204L
p.S2207L
p.S2263L
35.08.237E-6Guo2018 T
Wang2016 T
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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