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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     Valentino2021:42chr4:
6279306-6279306
CTexonicUnknownstopgainNM_001145853
NM_006005
c.C124T
c.C124T
p.R42X
p.R42X
21.82.0E-4Valentino2021 E
WFS1     2-1359-003chr4:
6293594-6293594
CTintronicDe novo-9.774E-5Yuen2017 G
WFS1     2-1425-004chr4:
6295971-6295971
CGintronicDe novo--Yuen2017 G
WFS1     2-1425-003chr4:
6295971-6295971
CGintronicDe novo--Yuen2017 G
WFS1     AU3839302chr4:
6303421-6303421
CTexonicDe novosynonymous SNVNM_001145853
NM_006005
c.C1899T
c.C1899T
p.V633V
p.V633V
-8.241E-6Yuen2017 G
WFS1     1-0200-004chr4:
6288898-6288898
CTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.C311T
c.C311T
p.T104I
p.T104I
16.24-Yuen2017 G
WFS1     NDAR_INVGR248DPC_wes1chr4:
6304198-6304198
ACUTR3De novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
WFS1     SP0085041chr4:
6303412-6303412
CTexonicDe novosynonymous SNVNM_001145853
NM_006005
c.C1890T
c.C1890T
p.S630S
p.S630S
--Fu2022 E
WFS1     SP0082603chr4:
6279203-6279203
GAexonicDe novosynonymous SNVNM_001145853
NM_006005
c.G21A
c.G21A
p.P7P
p.P7P
--Fu2022 E
WFS1     SP0078543chr4:
6279504-6279504
GTintronicDe novo--Fu2022 E
WFS1     SP0085082chr4:
6302888-6302888
CTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.C1366T
c.C1366T
p.R456C
p.R456C
10.266.596E-5Fu2022 E
WFS1     SP0065631chr4:
6290737-6290737
GTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.G339T
c.G339T
p.L113F
p.L113F
8.594-Fu2022 E
WFS1     3D620chr4:
6304086-6304086
CTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.C2564T
c.C2564T
p.S855L
p.S855L
0.0491.672E-5Fu2022 E
Satterstrom2020 E
WFS1     SP0013945chr4:
6303363-6303363
CTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.C1841T
c.C1841T
p.T614I
p.T614I
11.7-Fu2022 E
WFS1     ASC_4E252chr4:
6303477-6303477
ACexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.A1955C
c.A1955C
p.Y652S
p.Y652S
15.14-Fu2022 E
Satterstrom2020 E
WFS1     SP0042009chr4:
6303071-6303071
CTexonicDe novononsynonymous SNVNM_001145853
NM_006005
c.C1549T
c.C1549T
p.R517C
p.R517C
9.9713.301E-5Fu2022 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 notesView
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