Variant Results

or

or

Results for "WNK1"

Variant Events: 21

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

WNK1

AU2283301

chr12:
934718-934718

A

T

intronic

De novo

-

-

Trost2022 G

WNK1

MSSNG00011-003

chr12:
990665-990665

G

A

intronic

De novo

-

-

Trost2022 G

WNK1

72-1397

chr12:
977433-977433

G

C

exonic

Inherited

nonsynonymous SNV

NM_001184985
NM_213655

c.G2541C
c.G2796C

p.Q847H
p.Q932H

4.847

-

Patowary2019 E

WNK1

SP0038806

chr12:
974368-974368

C

T

exonic

De novo

synonymous SNV

NM_213655

c.C2232T

p.T744T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

WNK1

2-1540-003

chr12:
908656-908656

C

G

intronic

De novo

-

-

Trost2022 G

WNK1

MSSNG00348-003

chr12:
909309-909309

C

CA

intronic

De novo

-

-

Trost2022 G

WNK1

7-0017-003A

chr12:
866888-866888

G

T

intronic

De novo

-

-

Trost2022 G

WNK1

3-0749-000A

chr12:
893726-893726

A

G

intronic

De novo

-

-

Trost2022 G

WNK1

2-0198-005

chr12:
978728-978728

G

GCT

intronic

De novo

-

-

Yuen2017 G

WNK1

REACH000377

chr12:
864259-864259

C

T

intronic

De novo

-

-

Trost2022 G

WNK1

4-0046-004

chr12:
1015459-1015459

C

T

intronic

De novo

-

-

Trost2022 G

WNK1

SP0023043

chr12:
977046-977046

G

A

exonic

De novo

synonymous SNV

NM_001184985
NM_213655

c.G2154A
c.G2409A

p.A718A
p.A803A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

WNK1

5-5217-003

chr12:
1018440-1018445

TTTTTA

T

UTR3

De novo

-

-

Trost2022 G

WNK1

2-0159-003

chr12:
1003129-1003130

AT

CC

intronic

De novo

-

-

Trost2022 G

WNK1

REACH000097

chr12:
1013407-1013407

G

A

intronic

De novo

-

-

Trost2022 G

WNK1

2-1485-004

chr12:
978728-978728

G

GCT

intronic

De novo

-

-

Yuen2017 G

WNK1

7-0143-003

chr12:
1008692-1008692

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WNK1

11957.p1

chr12:
974486-974486

C

T

exonic

nonsynonymous SNV

NM_213655

c.C2350T

p.R784C

20.3

-

Zhou2022 GE

WNK1

111299

chr12:
1006676-1006676

C

T

exonic

nonsynonymous SNV

NM_014823
NM_001184985
NM_018979
NM_213655

c.C5533T
c.C7057T
c.C6277T
c.C7033T

p.R1845C
p.R2353C
p.R2093C
p.R2345C

20.4

Woodbury-Smith2022 E

WNK1

1-0271-003

chr12:
970740-970740

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WNK1

G01_GEA508HI

chr12:
971391-971391

C

A

exonic

De novo

synonymous SNV

NM_001184985
NM_014823
NM_018979
NM_213655

c.C2094A
c.C2094A
c.C2094A
c.C2094A

p.V698V
p.V698V
p.V698V
p.V698V

2.197

-

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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