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Results for "NAV1"

Variant Events: 16

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
NAV1     ASC_CA_58_Achr1:
201687569-201687569
GTexonicDe novosynonymous SNVNM_020443c.G912Tp.V304V--Fu2022 E
Satterstrom2020 E
NAV1     2-1363-003chr1:
201687561-201687561
CAexonicDe novononsynonymous SNVNM_020443c.C904Ap.R302S19.31-Jiang2013 G
Yuen2016 G
NAV1     PN400556chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     PN400132chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     1-0565-003chr1:
201628408-201628408
GAintronicDe novo--Yuen2017 G
NAV1     PN400283chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     SP0040857chr1:
201781716-201781716
CAexonicDe novosynonymous SNVNM_001167738
NM_020443
c.C3966A
c.C5148A
p.L1322L
p.L1716L
--Fu2022 E
NAV1     AU056003chr1:
201624547-201624547
CTintronicDe novo--Yuen2017 G
NAV1     SP0013320chr1:
201618009-201618009
CTexonicDe novosynonymous SNVNM_020443c.C213Tp.S71S--Fu2022 E
NAV1     SP0115318chr1:
201779672-201779672
AGexonicDe novononsynonymous SNVNM_001167738
NM_020443
c.A3401G
c.A4583G
p.D1134G
p.D1528G
25.6-Antaki2022 GE
Fu2022 E
NAV1     PN400232chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     SP0120937chr1:
201618322-201618322
CGexonicDe novononsynonymous SNVNM_020443c.C526Gp.R176G24.1-Antaki2022 GE
Fu2022 E
NAV1     PN400209chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     PN400557chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     PN400528chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
NAV1     PN400231chr1:
201762969-201762969
GAexonicUnknownnonsynonymous SNVNM_001167738
NM_020443
c.G2198A
c.G3371A
p.R733H
p.R1124H
34.0-Leblond2019 E
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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