or
or
Exact

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		CTexonicMosaic, De novosynonymous 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

, -

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
More

VariCarta Copyright © 2016-2020 Contact Us