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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
2.0E-4
Valentino2021
E
WFS1
2-1359-003
chr4:
6293594-6293594
C
T
intronic
De novo
-
9.774E-5
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
-
8.241E-6
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
6.596E-5
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
1.672E-5
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
3.301E-5
Fu2022
E
Source Variant Information
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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
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