Variant Results

or

Results for "KCNIP4"

Variant Events: 82

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

KCNIP4

1-0668-003

chr4:
22204488-22204499

CTAGTTAGTTAG

CTAGTTAG

intergenic

De novo

-

Yuen2017 G

KCNIP4

160573

chr4:
21764594-21764594

T

C

UTR5

De novo

-

Satterstrom2020 E

KCNIP4

7-0192-003

chr4:
21567406-21567406

G

C

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0129-004

chr4:
21355316-21355316

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4072303

chr4:
22130372-22130372

G

A

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU018010

chr4:
21279043-21279043

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU034904

chr4:
20815841-20815841

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0129-004

chr4:
21962161-21962161

T

C

intergenic

De novo

-

Yuen2017 G

KCNIP4

1-0804-003

chr4:
21430757-21430757

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0190-003

chr4:
21551877-21551877

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

7-0023-003

chr4:
22141228-22141229

GT

GTAT

intergenic

De novo

-

Yuen2017 G

KCNIP4

2-1366-004

chr4:
21756518-21756518

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1296-003

chr4:
21268839-21268839

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4154303

chr4:
20738839-20738839

G

T

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1502-003

chr4:
22267877-22267877

T

C

intergenic

De novo

-

Yuen2017 G

KCNIP4

2-0320-003

chr4:
20966243-20966243

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

AU3760302

chr4:
20737916-20737916

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0003-004

chr4:
22320706-22320706

A

G

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU049304

chr4:
21375958-21375958

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

AU071204

chr4:
21140403-21140403

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

7-0253-003

chr4:
21458809-21458809

A

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU1668302

chr4:
21049899-21049899

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU071804

chr4:
21703193-21703193

C

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0155-003

chr4:
21337604-21337604

C

G

intronic

De novo

-

Yuen2017 G

KCNIP4

AU071804

chr4:
21703197-21703197

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

7-0191-003

chr4:
21571493-21571493

A

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU3721301

chr4:
21235858-21235858

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

AU050604

chr4:
21371157-21371157

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

5-0095-003

chr4:
21782528-21782528

T

G

intronic

De novo

-

Yuen2017 G

KCNIP4

11057.p1

chr4:
21079014-21079014

T

TA

intronic

De novo

-

Werling2018 G

KCNIP4

12929.p1

chr4:
21461725-21461726

CG

C

intronic

Paternal

-

Wilfert2021 G

KCNIP4

1-0273-004

chr4:
21486377-21486377

C

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4032307

chr4:
21032177-21032177

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU3913303

chr4:
22180132-22180132

T

A

intergenic

De novo

-

Yuen2017 G

KCNIP4

1-0936-003

chr4:
21489369-21489369

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU059903

chr4:
20791410-20791410

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU2495302

chr4:
20964289-20964289

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1265-003

chr4:
21938213-21938213

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KCNIP4

AU031204

chr4:
20956100-20956100

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0022-005

chr4:
20770092-20770092

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0044-003

chr4:
20760948-20760948

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0332-003

chr4:
21714027-21714027

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0896-003

chr4:
21505806-21505806

A

T

intronic

De novo

-

Yuen2017 G

KCNIP4

11572.p1

chr4:
20860973-20860973

A

G

intronic

De novo

-

Turner2016 G

KCNIP4

AU4260303

chr4:
21556362-21556362

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0585-003

chr4:
22306211-22306211

C

T

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU4426303

chr4:
21521121-21521126

ATGTGT

AT

intronic

De novo

-

Yuen2017 G

KCNIP4

13515.p1

chr4:
20883781-20883781

T

C

intronic

De novo

-

Turner2016 G

KCNIP4

2-1093-003

chr4:
21318815-21318815

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4060306

chr4:
21492927-21492927

C

G

intronic

De novo

-

Yuen2017 G

KCNIP4

AU1860302

chr4:
22062057-22062057

C

T

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU3761301

chr4:
21218231-21218231

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0175-004

chr4:
20818332-20818332

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4392301

chr4:
20871384-20871384

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU3371305

chr4:
22101988-22101988

C

A

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU4392301

chr4:
21227730-21227730

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1094-004

chr4:
22276448-22276448

G

C

intergenic

De novo

-

Yuen2017 G

KCNIP4

2-0295-004

chr4:
21792057-21792057

A

T

intronic

Maternal

-

Yuen2017 G

KCNIP4

5-0116-003

chr4:
21465955-21465955

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

5-0116-003

chr4:
21923356-21923356

G

C

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0487-003

chr4:
20836937-20836937

T

C

intronic

De novo

-

Yuen2016 G

KCNIP4

AU011604

chr4:
21062220-21062220

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

3-0065-000

chr4:
21155071-21155089

CCTCTCTCTCTCTCTCTCT

CCTCTCTCTCTCTCTCT

intronic

De novo

-

Yuen2017 G

KCNIP4

AU031404

chr4:
21567464-21567466

ACC

AC

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0744-003

chr4:
22101624-22101624

C

T

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU072005

chr4:
21496577-21496577

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU2756306

chr4:
21470868-21470868

C

T

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4306302

chr4:
21257832-21257832

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0272-003

chr4:
21234341-21234341

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0175-003

chr4:
20818332-20818332

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0290-003

chr4:
21945267-21945267

G

A

intronic

De novo

-

Yuen2017 G

KCNIP4

AU4235303

chr4:
22021915-22021915

C

A

intergenic

De novo

-

Yuen2017 G

KCNIP4

5-0045-003

chr4:
22077969-22077969

T

C

intergenic

De novo

-

Yuen2017 G

KCNIP4

AU066404

chr4:
21824226-21824226

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1391-004

chr4:
21588384-21588384

A

T

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1391-004

chr4:
20847974-20847974

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

2-1277-004

chr4:
21915106-21915106

C

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0736-003

chr4:
21836920-21836920

T

A

intronic

De novo

-

Yuen2017 G

KCNIP4

1-0126-003

chr4:
21444273-21444273

A

G

intronic

De novo

-

Yuen2017 G

KCNIP4

2-0295-003

chr4:
21792057-21792057

A

T

intronic

Maternal

-

Yuen2017 G

KCNIP4

1-0412-003

chr4:
21297523-21297523

T

C

intronic

De novo

-

Yuen2017 G

KCNIP4

5-0140-003

chr4:
21293176-21293176

A

G

intronic

De novo

-

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
	More