Variant Results

or

Results for "SLC12A6"

Variant Events: 22

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

SLC12A6

1-0141-003

chr15:
34608022-34608022

T

C

intronic

De novo

-

Trost2022 G

SLC12A6

AU071203

chr15:
34616152-34616152

G

A

intronic

De novo

-

Trost2022 G

SLC12A6

5-5111-003

chr15:
34599547-34599547

A

C

intronic

De novo

-

Trost2022 G

SLC12A6

AU4079302

chr15:
34600845-34600849

AAAAA

AAAAACAAAA

intronic

De novo

-

Yuen2017 G

SLC12A6

1-0141-003

chr15:
34608019-34608019

G

AA

intronic

De novo

-

Trost2022 G

SLC12A6

MT_161.3

chr15:
34567483-34567483

C

T

intronic

De novo

-

Trost2022 G

SLC12A6

3-0630-000

chr15:
34583170-34583170

T

TA

intronic

De novo

-

Trost2022 G

SLC12A6

20-1301909-05

chr15:
34529580-34529580

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SLC12A6

AU1448301

chr15:
34588755-34588755

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC12A6

AU3399303

chr15:
34536215-34536215

G

A

exonic

De novo

stopgain

NM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496

c.C1957T
c.C1849T
c.C2002T
c.C1825T
c.C1825T
c.C1975T

p.R653X
p.R617X
p.R668X
p.R609X
p.R609X
p.R659X

39.0

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

SLC12A6

NP157

chr15:
34553104-34553104

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SLC12A6

21852-36011

chr15:
34538036-34538036

A

G

exonic

Inherited

nonsynonymous SNV

NM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496

c.T1637C
c.T1529C
c.T1682C
c.T1505C
c.T1505C
c.T1655C

p.V546A
p.V510A
p.V561A
p.V502A
p.V502A
p.V552A

17.96

-

Callaghan2019 G

SLC12A6

PN400133

chr15:
34610813-34610815

CTT

C

exonic

Unknown

frameshift deletion

NM_005135

c.65_66del

p.Q22fs

-

Leblond2019 E

SLC12A6

1-0330-004

chr15:
34628677-34628677

A

G

exonic

De novo

nonsynonymous SNV

NM_001042497
NM_133647
NM_001042494
NM_001042495
NM_001042496

c.T205C
c.T205C
c.T28C
c.T28C
c.T178C

p.S69P
p.S69P
p.S10P
p.S10P
p.S60P

12.8

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

SLC12A6

1-0294-003

chr15:
34583530-34583530

T

C

intronic

De novo

-

Yuen2017 G

SLC12A6

2-1567-003

chr15:
34587196-34587196

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC12A6

AU4347301

chr15:
34565769-34565769

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SLC12A6

36790

chr15:
34547613-34547613

G

A

intronic

De novo

-

8.441E-6

Trost2022 G

SLC12A6

AU2287301

chr15:
34558871-34558871

C

CTT

intronic

De novo

-

Trost2022 G

SLC12A6

111311

chr15:
34542879-34542879

G

C

exonic

nonsynonymous SNV

NM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496

c.C1499G
c.C1391G
c.C1544G
c.C1367G
c.C1367G
c.C1517G

p.S500C
p.S464C
p.S515C
p.S456C
p.S456C
p.S506C

24.1

-

Woodbury-Smith2022 E

SLC12A6

1-0172-005

chr15:
34546102-34546102

C

T

intronic

De novo

-

Trost2022 G

SLC12A6

14526.p1

chr15:
34547613-34547613

G

A

intronic

De novo

-

8.441E-6

Krumm2015 E
Satterstrom2020 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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