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Results for "NVL"
Variant Events: 12
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
NVL
2-1235-004
chr1:
224418565-224418565
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NVL
2-1567-003
chr1:
224445713-224445713
T
TTGA
intronic
De novo
-
-
Yuen2017
G
NVL
7-0405-004
chr1:
224475971-224475971
G
A
intronic
De novo
-
-
Trost2022
G
NVL
mAGRE5050
chr1:
224505394-224505394
A
ACTC
splicing
Maternal
splicing
-
1.0E-4
Cirnigliaro2023
G
NVL
AU2162302
chr1:
224440146-224440146
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
NVL
MSSNG00084-003
chr1:
224455156-224455156
G
A
intronic
De novo
-
-
Trost2022
G
NVL
MSSNG00439-004
chr1:
224492644-224492644
T
C
intronic
De novo
-
-
Trost2022
G
NVL
SSC08089
chr1:
224477160-224477160
A
T
intronic
De novo
-
-
Trost2022
G
NVL
AU4372309
chr1:
224444041-224444041
C
T
intronic
De novo
-
-
Yuen2017
G
NVL
156-3925
chr1:
224491525-224491525
G
A
exonic
Inherited
nonsynonymous SNV
NM_001243146
NM_001243147
NM_206840
NM_002533
c.C212T
c.C587T
c.C542T
c.C860T
p.P71L
p.P196L
p.P181L
p.P287L
26.8
2.497E-5
Patowary2019
E
NVL
AU2975302
chr1:
224542763-224542766
TCCC
TCC
intergenic
De novo
-
-
Yuen2017
G
NVL
13556.p1
chr1:
224477160-224477160
A
T
intronic
De novo
-
-
Satterstrom2020
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 notes
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