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Results for "NAV1"

Variant Events: 21

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
Trost2022 G
Zhou2022 GE
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     REACH000144chr1:
201777608-201777608		AGexonicDe novononsynonymous SNVNM_001167738
NM_020443		c.A2726G
c.A3908G		p.E909G
p.E1303G		29.7-Trost2022 G
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
NAV1     AU056003chr1:
201624547-201624547		CTintronicDe novo--Trost2022 G
Yuen2017 G
NAV1     SP0013320chr1:
201618009-201618009		CTexonicDe novosynonymous SNVNM_020443c.C213Tp.S71S--Fu2022 E
Trost2022 G
Zhou2022 GE
NAV1     5-5040-003chr1:
201646944-201646944		GCintronicDe novo--Trost2022 G
NAV1     SP0115318chr1:
201779672-201779672		AGexonicDe novononsynonymous SNVNM_001167738
NM_020443		c.A3401G
c.A4583G		p.D1134G
p.D1528G		25.6-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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
Trost2022 G
Zhou2022 GE
NAV1     5-5146-004chr1:
201616603-201616603		TCupstreamDe novo--Trost2022 G
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     2-1724-003chr1:
201641136-201641136		GGTCintronicDe novo--Trost2022 G
NAV1     MSSNG00029-003chr1:
201634238-201634238		CTintronicDe novo--Trost2022 G
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
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