Variant Results

or

or

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

-

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

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

, -

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	View
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