Variant Results

or

or

Results for "VCL"

Variant Events: 24

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

VCL

REACH000419

chr10:
75878083-75878083

T

C

UTR3

De novo

-

-

Trost2022 G

VCL

1-0019-004

chr10:
75780463-75780463

G

T

intronic

De novo

-

-

Yuen2017 G

VCL

10-0010-003

chr10:
75811160-75811160

A

G

intronic

De novo

-

-

Trost2022 G

VCL

1-1015-003A

chr10:
75847753-75847753

C

T

intronic

De novo

-

-

Trost2022 G

VCL

2-1800-003

chr10:
75799393-75799393

A

C

intronic

De novo

-

-

Trost2022 G

VCL

NDAR_INVYH284TCH_wes1

chr10:
75863536-75863536

G

A

intronic

De novo

-

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

VCL

3-0007-000

chr10:
75804651-75804651

A

G

intronic

De novo

-

-

Trost2022 G

VCL

1-0744-003

chr10:
75798659-75798659

A

AT

intronic

De novo

-

-

Trost2022 G

VCL

2-1800-003

chr10:
75799375-75799375

T

C

intronic

De novo

-

-

Trost2022 G

VCL

1397021

chr10:
75874562-75874562

C

T

exonic

De novo

stopgain

NM_003373
NM_014000

c.C2959T
c.C3163T

p.R987X
p.R1055X

38.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

VCL

AU054303

chr10:
75843265-75843265

G

A

exonic

De novo

nonsynonymous SNV

NM_003373
NM_014000

c.G1016A
c.G1016A

p.R339H
p.R339H

26.8

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

VCL

AU3907301

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

VCL

AU3605303

chr10:
75821598-75821598

G

A

intronic

De novo

-

-

Yuen2017 G

VCL

111311

chr10:
75865063-75865063

C

A

exonic

nonsynonymous SNV

NM_003373
NM_014000

c.C2386A
c.C2386A

p.P796T
p.P796T

24.3

-

Woodbury-Smith2022 E

VCL

T2T9E-01

chr10:
75780630-75780630

G

A

intronic

De novo

-

-

Trost2022 G

VCL

11341.p1

chr10:
75785489-75785489

T

G

intronic

De novo

-

-

Turner2016 G

VCL

1-1221-003

chr10:
75791396-75791396

C

T

intronic

De novo

-

-

Trost2022 G

VCL

1-0627-006

chr10:
75771064-75771064

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

VCL

B5X9C-01

chr10:
75780630-75780630

G

A

intronic

De novo

-

-

Trost2022 G

VCL

REACH000202

chr10:
75780630-75780630

G

A

intronic

De novo

-

-

Trost2022 G

VCL

SP0120937

chr10:
75874655-75874655

C

T

exonic

De novo

stopgain

NM_003373
NM_014000

c.C3052T
c.C3256T

p.Q1018X
p.Q1086X

37.0

-

Fu2022 E
Zhou2022 GE

VCL

MT_182.3

chr10:
75765579-75765583

TATAA

T

intronic

De novo

-

-

Trost2022 G

VCL

1-0057-003

chr10:
75768773-75768773

A

G

intronic

De novo

-

-

Trost2022 G

VCL

MSSNG00054-005

chr10:
75760526-75760526

T

A

intronic

De novo

-

-

Trost2022 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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