Variant Results

or

Results for "VIL1"

Variant Events: 13

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

VIL1

SP0114033

chr2:
219294423-219294423

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

VIL1

3-0459-000

chr2:
219284904-219284904

G

C

intronic

De novo

-

Trost2022 G

VIL1

AU185A

chr2:
219294054-219294054

G

A

exonic

De novo

nonsynonymous SNV

NM_007127

c.G614A

p.R205H

24.4

4.976E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VIL1

SP0012665

chr2:
219294663-219294663

A

T

exonic

De novo

nonsynonymous SNV

NM_007127

c.A941T

p.H314L

10.88

-

Trost2022 G

VIL1

09C80386

chr2:
219297564-219297564

G

A

exonic

De novo

nonsynonymous SNV

NM_007127

c.G1390A

p.V464I

26.0

3.305E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VIL1

Cukier2014:7713

chr2:
219299328-219299328

A

C

exonic

Unknown

nonsynonymous SNV

NM_007127

c.A1580C

p.N527T

13.38

4.0E-4

Cukier2014 E

VIL1

2-0305-004

chr2:
219308635-219308635

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIL1

PN400103

chr2:
219294332-219294332

C

T

exonic

De novo

synonymous SNV

NM_007127

c.C783T

p.S261S

-

3.0E-4

Leblond2019 E

VIL1

mAGRE4180

chr2:
219299419-219299419

G

A

exonic

Paternal

stopgain

NM_007127

c.G1671A

p.W557X

37.0

-

Cirnigliaro2023 G

VIL1

mAGRE2888

chr2:
219292797-219292797

G

A

splicing

Maternal

splicing

23.5

-

Cirnigliaro2023 G

VIL1

2-1366-003

chr2:
219292241-219292241

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIL1

2-1525-003

chr2:
219284280-219284280

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIL1

iHART2888

chr2:
219292797-219292797

G

A

splicing

Maternal

splicing

23.5

-

Ruzzo2019 G

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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