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Results for "WNK2"

Variant Events: 13

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
WNK2     7-0133-003chr9:
96040512-96040512
CTintronicDe novo--Yuen2017 G
WNK2     2-0242-005chr9:
95980931-95980931
GAintronicDe novo--Yuen2017 G
WNK2     AU031204chr9:
96060200-96060200
GTexonicDe novononsynonymous SNVNM_006648
NM_001282394
c.G5774T
c.G5885T
p.R1925L
p.R1962L
27.0-Yuen2017 G
WNK2     13876.p1chr9:
96019312-96019312
ACexonicDe novononsynonymous SNVNM_001282394
NM_006648
c.A2273C
c.A2273C
p.H758P
p.H758P
2.3661.163E-5Satterstrom2020 E
WNK2     1-0045-004chr9:
96046436-96046436
AGintronicDe novo--Yuen2017 G
WNK2     AU2035301chr9:
95962493-95962493
CTintronicDe novo--Yuen2017 G
WNK2     AU0146302chr9:
96078315-96078315
GAintronicDe novo--Yuen2017 G
WNK2     AU2035302chr9:
95962493-95962493
CTintronicDe novo--Yuen2017 G
WNK2     SP0003502chr9:
96052304-96052304
GAexonicDe novosynonymous SNVNM_006648
NM_001282394
c.G4911A
c.G5022A
p.E1637E
p.E1674E
1.832-Fu2022 E
WNK2     1-0139-003chr9:
96029134-96029134
CGintronicDe novo--Yuen2017 G
WNK2     AU4237302chr9:
95969739-95969740
GTGintronicDe novo--Yuen2017 G
WNK2     AU061104chr9:
95970872-95970872
CAintronicDe novo--Yuen2017 G
WNK2     P1369chr9:
96069086-96069086
GCexonicDe novononsynonymous SNVNM_006648
NM_001282394
c.G6242C
c.G6353C
p.G2081A
p.G2118A
27.6-Hashimoto2016 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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