Variant Results

or

Results for "KCNC1"

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

KCNC1

1-1036-003

chr11:
17765612-17765612

G

A

intronic

De novo

-

Trost2022 G

KCNC1

SSC06417

chr11:
17793530-17793530

G

A

exonic

De novo

nonsynonymous SNV

NM_001112741
NM_004976

c.G889A
c.G889A

p.G297S
p.G297S

17.68

1.648E-5

Antaki2022 GE
Lim2017 E

KCNC1

AU3861301

chr11:
17803211-17803211

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

KCNC1

iHART3262

chr11:
17793890-17793890

G

T

exonic

De novo

nonsynonymous SNV

NM_001112741
NM_004976

c.G1249T
c.G1249T

p.G417W
p.G417W

19.07

-

Ruzzo2019 G

KCNC1

SP0031769

chr11:
17797294-17797294

C

T

UTR3

De novo

-

Trost2022 G

KCNC1

7-0251-003

chr11:
17764792-17764793

AG

AGG

intronic

De novo

-

Yuen2017 G

KCNC1

1017_17mr

chr11:
17793748-17793748

A

AG

exonic

De novo

frameshift insertion

NM_001112741
NM_004976

c.1108dupG
c.1108dupG

p.I369fs
p.I369fs

-

Fu2022 E

KCNC1

MSSNG00021-004

chr11:
17767635-17767635

C

T

intronic

De novo

-

Trost2022 G

KCNC1

3-0647-000

chr11:
17782058-17782058

G

A

intronic

De novo

-

Trost2022 G

KCNC1

AU4032305

chr11:
17793890-17793890

G

T

exonic

De novo

nonsynonymous SNV

NM_001112741
NM_004976

c.G1249T
c.G1249T

p.G417W
p.G417W

19.07

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

KCNC1

AU3051303

chr11:
17770132-17770132

C

A

intronic

De novo

-

Yuen2017 G

KCNC1

12975.p1

chr11:
17793530-17793530

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001112741
NM_004976

c.G889A
c.G889A

p.G297S
p.G297S

17.68

1.648E-5

Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Zhou2022 GE

KCNC1

11016.p1

chr11:
17793358-17793358

C

T

exonic

Mosaic

synonymous SNV

NM_001112741
NM_004976

c.C717T
c.C717T

p.A239A
p.A239A

-

9.884E-5

Dou2017 E
Krupp2017 E

KCNC1

A220203

chr11:
17793416-17793416

G

C

exonic

De novo

nonsynonymous SNV

NM_001112741
NM_004976

c.G775C
c.G775C

p.E259Q
p.E259Q

19.36

-

Fu2022 E

KCNC1

SP0051413

chr11:
17800957-17800957

T

G

intronic

De novo

-

Fu2022 E

KCNC1

SP0048957

chr11:
17800947-17800947

T

G

intronic

De novo

-

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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