Variant Results

or

Results for "VIT"

Variant Events: 35

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

VIT

AU3649305

chr2:
36959804-36959804

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

AU2029302

chr2:
36934606-36934606

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

SP0118088

chr2:
37041496-37041496

C

T

exonic

De novo

nonsynonymous SNV

NM_001177970
NM_001177971
NM_001177969
NM_053276

c.C1966T
c.C1963T
c.C2029T
c.C2074T

p.R656W
p.R655W
p.R677W
p.R692W

21.1

6.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

VIT

SP0095440

chr2:
36986124-36986124

A

G

exonic

De novo

nonsynonymous SNV

NM_001177969
NM_001177970
NM_001177971
NM_001177972
NM_053276

c.A422G
c.A422G
c.A422G
c.A422G
c.A422G

p.K141R
p.K141R
p.K141R
p.K141R
p.K141R

12.62

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VIT

SP0043315

chr2:
36994410-36994410

C

T

exonic

De novo

nonsynonymous SNV

NM_001177969
NM_001177970
NM_001177971
NM_053276

c.C661T
c.C661T
c.C661T
c.C661T

p.H221Y
p.H221Y
p.H221Y
p.H221Y

13.99

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VIT

2-0208-004

chr2:
37003977-37003977

T

TA

intronic

De novo

-

Yuen2017 G

VIT

SP0028406

chr2:
36994146-36994146

C

T

intronic

De novo

-

Fu2022 E

VIT

7-0456-003

chr2:
36927617-36927617

G

A

intronic

De novo

-

Trost2022 G

VIT

MSSNG00391-003

chr2:
36945998-36945998

G

T

intronic

De novo

-

Trost2022 G

VIT

AU2029303

chr2:
36934606-36934606

G

A

intronic

De novo

-

Yuen2017 G

VIT

1-0446-003

chr2:
36928182-36928185

GTGA

TTTTTTT

intronic

De novo

-

Trost2022 G

VIT

2-1605-003

chr2:
37003977-37003977

T

TA

intronic

De novo

-

Yuen2017 G

VIT

AU2023302

chr2:
36957339-36957339

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

SP0016562

chr2:
37001604-37001604

T

G

intronic

De novo

-

Trost2022 G

VIT

1-0262-003A

chr2:
36987883-36987883

G

A

intronic

De novo

-

Trost2022 G

VIT

7-0314-003A

chr2:
37007552-37007552

T

C

intronic

De novo

-

Trost2022 G

VIT

AU036203

chr2:
37051986-37051986

C

T

intergenic

De novo

-

Yuen2017 G

VIT

AU2308301

chr2:
37004616-37004616

G

A

intronic

De novo

-

Trost2022 G

VIT

MT_179.4

chr2:
36965776-36965776

G

C

intronic

De novo

-

Trost2022 G

VIT

REACH000219

chr2:
36965489-36965489

G

A

intronic

De novo

-

Trost2022 G

VIT

REACH000718

chr2:
36986560-36986560

A

G

UTR3

De novo

-

Trost2022 G

VIT

AU2168301

chr2:
36980555-36980555

G

A

intronic

De novo

-

Trost2022 G

VIT

1-0009-004

chr2:
36966842-36966842

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

2-1383-003

chr2:
37011378-37011378

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

REACH000349

chr2:
37019056-37019056

G

T

intronic

De novo

-

Trost2022 G

VIT

2-1383-003

chr2:
37009293-37009293

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

AU2328301

chr2:
37015750-37015752

AGG

A

intronic

De novo

-

Trost2022 G

VIT

5-5020-003

chr2:
37034019-37034019

T

C

intronic

De novo

-

Trost2022 G

VIT

1-0404-003

chr2:
37028921-37028921

A

C

intronic

De novo

-

Trost2022 G

VIT

AU4027306

chr2:
36941549-36941549

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

1-0373-003

chr2:
37003972-37003972

A

G

intronic

De novo

-

Yuen2017 G

VIT

2-1383-003

chr2:
37020008-37020008

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

2-1383-003

chr2:
37018387-37018387

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

2-1383-003

chr2:
37014122-37014122

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

VIT

133343

chr2:
36982171-36982171

G

A

exonic

nonsynonymous SNV

NM_001177969
NM_001177970
NM_001177971
NM_001177972
NM_053276

c.G383A
c.G383A
c.G383A
c.G383A
c.G383A

p.R128Q
p.R128Q
p.R128Q
p.R128Q
p.R128Q

22.0

-

Woodbury-Smith2022 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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