Variant Results

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Results for "WFS1"

Variant Events: 16

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

WFS1

Valentino2021:42

chr4:
6279306-6279306

C

T

exonic

Unknown

stopgain

NM_001145853
NM_006005

c.C124T
c.C124T

p.R42X
p.R42X

21.8

Valentino2021 E

WFS1

2-1359-003

chr4:
6293594-6293594

C

T

intronic

De novo

-

Yuen2017 G

WFS1

2-1425-004

chr4:
6295971-6295971

C

G

intronic

De novo

-

-

Yuen2017 G

WFS1

2-1425-003

chr4:
6295971-6295971

C

G

intronic

De novo

-

-

Yuen2017 G

WFS1

AU3839302

chr4:
6303421-6303421

C

T

exonic

De novo

synonymous SNV

NM_001145853
NM_006005

c.C1899T
c.C1899T

p.V633V
p.V633V

-

Yuen2017 G

WFS1

1-0200-004

chr4:
6288898-6288898

C

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.C311T
c.C311T

p.T104I
p.T104I

16.24

-

Yuen2017 G

WFS1

NDAR_INVGR248DPC_wes1

chr4:
6304198-6304198

A

C

UTR3

De novo

-

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

WFS1

SP0085041

chr4:
6303412-6303412

C

T

exonic

De novo

synonymous SNV

NM_001145853
NM_006005

c.C1890T
c.C1890T

p.S630S
p.S630S

-

-

Fu2022 E

WFS1

SP0082603

chr4:
6279203-6279203

G

A

exonic

De novo

synonymous SNV

NM_001145853
NM_006005

c.G21A
c.G21A

p.P7P
p.P7P

-

-

Fu2022 E

WFS1

SP0078543

chr4:
6279504-6279504

G

T

intronic

De novo

-

-

Fu2022 E

WFS1

SP0085082

chr4:
6302888-6302888

C

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.C1366T
c.C1366T

p.R456C
p.R456C

10.26

Fu2022 E

WFS1

SP0065631

chr4:
6290737-6290737

G

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.G339T
c.G339T

p.L113F
p.L113F

8.594

-

Fu2022 E

WFS1

3D620

chr4:
6304086-6304086

C

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.C2564T
c.C2564T

p.S855L
p.S855L

0.049

Fu2022 E
Satterstrom2020 E

WFS1

SP0013945

chr4:
6303363-6303363

C

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.C1841T
c.C1841T

p.T614I
p.T614I

11.7

-

Fu2022 E

WFS1

ASC_4E252

chr4:
6303477-6303477

A

C

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.A1955C
c.A1955C

p.Y652S
p.Y652S

15.14

-

Fu2022 E
Satterstrom2020 E

WFS1

SP0042009

chr4:
6303071-6303071

C

T

exonic

De novo

nonsynonymous SNV

NM_001145853
NM_006005

c.C1549T
c.C1549T

p.R517C
p.R517C

9.971

Fu2022 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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