Variant Results

or

Results for "KCNS3"

Variant Events: 44

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

KCNS3

1-0206-004

chr2:
18078360-18078360

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KCNS3

AU3125301

chr2:
18089643-18089643

G

T

intronic

De novo

-

Yuen2017 G

KCNS3

2-0002-005

chr2:
18674185-18674189

AAAGA

AA

intergenic

De novo

-

Yuen2017 G

KCNS3

AU4308302

chr2:
18449724-18449724

C

A

intergenic

De novo

-

Yuen2017 G

KCNS3

2-0273-003

chr2:
18466582-18466582

T

G

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0404-003

chr2:
18202340-18202340

G

A

intergenic

De novo

-

Yuen2017 G

KCNS3

AU2129303

chr2:
18089486-18089486

A

G

intronic

De novo

-

Yuen2017 G

KCNS3

1-0148-005

chr2:
18288293-18288293

T

C

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0534-003

chr2:
18377417-18377417

C

A

intergenic

De novo

-

Yuen2017 G

KCNS3

2-0158-003

chr2:
18685092-18685092

T

C

intergenic

De novo

-

Yuen2017 G

KCNS3

150942042

chr2:
18113537-18113538

TG

T

exonic

De novo

frameshift deletion

NM_001282428
NM_002252

c.1263delG
c.1263delG

p.V421fs
p.V421fs

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KCNS3

AU4056302

chr2:
18515864-18515864

T

A

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0638-003

chr2:
18681505-18681505

A

G

intergenic

De novo

-

Yuen2017 G

KCNS3

AU3052302

chr2:
18113611-18113611

C

T

exonic

Paternal

stopgain

NM_001282428
NM_002252

c.C1336T
c.C1336T

p.Q446X
p.Q446X

37.0

2.471E-5

Cirnigliaro2023 G

KCNS3

AU3052301

chr2:
18113611-18113611

C

T

exonic

Paternal

stopgain

NM_001282428
NM_002252

c.C1336T
c.C1336T

p.Q446X
p.Q446X

37.0

2.471E-5

Cirnigliaro2023 G

KCNS3

13942.p1

chr2:
18196573-18196573

G

A

intergenic

De novo

-

Turner2016 G

KCNS3

151467

chr2:
18112855-18112855

G

A

exonic

De novo

nonsynonymous SNV

NM_001282428
NM_002252

c.G580A
c.G580A

p.V194M
p.V194M

11.1

1.0E-4

Fu2022 E

KCNS3

mAGRE3107

chr2:
18112391-18112393

CCA

C

exonic

Maternal

frameshift deletion

NM_001282428
NM_002252

c.117_118del
c.117_118del

p.T39fs
p.T39fs

-

3.295E-5

Cirnigliaro2023 G

KCNS3

1-0075-003

chr2:
18521662-18521662

T

G

intergenic

De novo

-

Yuen2017 G

KCNS3

AU3787303

chr2:
18149335-18149335

C

T

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0155-003

chr2:
18370002-18370002

C

T

intergenic

De novo

-

Yuen2017 G

KCNS3

AU2975302

chr2:
18478844-18478844

A

T

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0273-004

chr2:
18274703-18274703

A

G

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0571-003

chr2:
18633038-18633038

C

T

intergenic

De novo

-

Yuen2017 G

KCNS3

2-1137-003

chr2:
18276496-18276496

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KCNS3

2-1223-003

chr2:
18431478-18431480

TGG

TG

intergenic

De novo

-

Yuen2017 G

KCNS3

1-0196-005

chr2:
18285519-18285519

G

A

intergenic

De novo

-

Yuen2017 G

KCNS3

AU066404

chr2:
18475082-18475090

TGATTATAA

TGATTATAAGATTATAA

intergenic

De novo

-

Yuen2017 G

KCNS3

5-0128-003

chr2:
18536102-18536102

C

A

intergenic

De novo

-

Yuen2017 G

KCNS3

10-1104-004

chr2:
18084306-18084306

A

G

intronic

De novo

-

Trost2022 G

KCNS3

MT_89.3

chr2:
18058929-18058929

G

A

upstream

De novo

-

Trost2022 G

KCNS3

AU3857301

chr2:
18206090-18206090

C

T

intergenic

De novo

-

Yuen2017 G

KCNS3

REACH000092

chr2:
18101232-18101232

C

T

intronic

De novo

-

Trost2022 G

KCNS3

1-1210-003

chr2:
18098803-18098803

C

G

intronic

De novo

-

Trost2022 G

KCNS3

7-0141-003

chr2:
18390703-18390703

C

G

intergenic

De novo

-

Yuen2017 G

KCNS3

7-0161-003

chr2:
18368361-18368361

A

C

intergenic

De novo

-

Yuen2017 G

KCNS3

AU4093304

chr2:
18354546-18354546

T

C

intergenic

De novo

-

Yuen2017 G

KCNS3

AU3900302

chr2:
18203358-18203358

T

G

intergenic

De novo

-

Yuen2017 G

KCNS3

10C117850

chr2:
18113537-18113538

TG

T

exonic

De novo

frameshift deletion

NM_001282428
NM_002252

c.1263delG
c.1263delG

p.V421fs
p.V421fs

-

DeRubeis2014 E
Kosmicki2017 E

KCNS3

2-1427-003

chr2:
18402123-18402123

C

G

intergenic

De novo

-

Yuen2017 G

KCNS3

AU0780302

chr2:
18255631-18255631

T

C

intergenic

De novo

-

Yuen2017 G

KCNS3

iHART3056

chr2:
18113611-18113611

C

T

exonic

Paternal

stopgain

NM_001282428
NM_002252

c.C1336T
c.C1336T

p.Q446X
p.Q446X

37.0

2.471E-5

Ruzzo2019 G

KCNS3

iHART3055

chr2:
18113611-18113611

C

T

exonic

Paternal

stopgain

NM_001282428
NM_002252

c.C1336T
c.C1336T

p.Q446X
p.Q446X

37.0

2.471E-5

Ruzzo2019 G

KCNS3

2-1241-003

chr2:
18557713-18557713

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

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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