Variant Results

or

or

Results for "KCNK9"

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

KCNK9

AU079605

chr8:
140708404-140708404

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

2-1505-003

chr8:
140702394-140702394

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

2-1336-003

chr8:
140651295-140651296

AC

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

2-1342-003

chr8:
140670423-140670423

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KCNK9

5-0042-003

chr8:
140719100-140719100

G

A

intergenic

De novo

-

-

Yuen2017 G

KCNK9

AU1894304

chr8:
140677023-140677023

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

5-0074-003

chr8:
140677778-140677778

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

1-0271-004

chr8:
140639480-140639480

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

7-0392-003

chr8:
140699719-140699719

A

G

intronic

De novo

-

-

Trost2022 G

KCNK9

AU4392301

chr8:
140699719-140699719

A

G

intronic

De novo

-

-

Trost2022 G

KCNK9

AU1894304

chr8:
140677203-140677203

G

GTT

intronic

De novo

-

-

Trost2022 G

KCNK9

3-0352-000

chr8:
140688495-140688495

C

T

intronic

De novo

-

-

Trost2022 G

KCNK9

5-5152-003

chr8:
140639155-140639155

G

A

intronic

De novo

-

-

Trost2022 G

KCNK9

MSSNG00085-003

chr8:
140653585-140653585

C

T

intronic

De novo

-

-

Trost2022 G

KCNK9

1-0153-004

chr8:
140701930-140701930

A

G

intronic

De novo

-

-

Yuen2017 G

KCNK9

3-0607-000

chr8:
140635808-140635827

CCTCCTACCCCACCTGTGAG

C

intronic

De novo

-

-

Trost2022 G

KCNK9

2-1460-003

chr8:
140698913-140698913

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

Krgovic2022:019020

chr8:
140631234-140631234

C

T

exonic

De novo

nonsynonymous SNV

NM_001282534

c.G392A

p.R131H

24.0

-

Krgovic2022 E

KCNK9

AU075703

chr8:
140644740-140644740

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KCNK9

MSSNG00231-003

chr8:
140712086-140712086

C

T

intronic

De novo

-

-

Trost2022 G

KCNK9

3-0090-001

chr8:
140702127-140702127

T

C

intronic

De novo

-

-

Trost2022 G

KCNK9

SJD_71.3

chr8:
140704768-140704768

G

T

intronic

De novo

-

-

Trost2022 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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