Variant Results

or

Results for "HMCN2"

Variant Events: 34

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

HMCN2

2-0003-004

chr9:
133305548-133305548

C

T

intronic

De novo

-

Yuen2017 G

HMCN2

7-0035-003

chr9:
133240347-133240347

C

G

intronic

De novo

-

Yuen2017 G

HMCN2

AU4159302

chr9:
133305319-133305319

C

T

intronic

De novo

-

Yuen2017 G

HMCN2

7-0127-003

chr9:
133045202-133045202

T

TTGC

intronic

De novo

-

Yuen2017 G

HMCN2

3D612

chr9:
133226782-133226782

G

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

HMCN2

SP0038165

chr9:
133298027-133298027

C

G

exonic

De novo

unknown

18.07

-

Feliciano2019 E
Trost2022 G
Zhou2022 GE

HMCN2

1-0387-003

chr9:
133283175-133283175

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HMCN2

SP0038165

chr9:
133298006-133298006

A

G

exonic

De novo

unknown

17.63

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

HMCN2

111309

chr9:
133284304-133284304

C

T

exonic

unknown

-

Woodbury-Smith2022 E

HMCN2

1-0871-003

chr9:
133269326-133269326

G

A

exonic

De novo

unknown

-

Yuen2017 G

HMCN2

2-0305-003

chr9:
133261183-133261183

C

T

intronic

De novo

-

Yuen2017 G

HMCN2

12689.p1

chr9:
133058968-133058968

C

T

exonic

De novo

unknown

17.06

6.128E-5

Satterstrom2020 E

HMCN2

AU073006

chr9:
133250754-133250757

CGGG

CGGGG

intronic

De novo

-

Yuen2017 G

HMCN2

SP0314675

chr9:
133298092-133298092

C

T

exonic

unknown

11.61

2.0E-4

Zhou2022 GE

HMCN2

3-0456-000

chr9:
133266314-133266314

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

HMCN2

SP0117414

chr9:
133258254-133258254

G

C

splicing

De novo

splicing

-

Fu2022 E

HMCN2

3-0456-000B

chr9:
133266314-133266314

A

G

intronic

De novo

-

Yuen2017 G

HMCN2

SSC05224

chr9:
133058968-133058968

C

T

exonic

De novo

unknown

17.06

6.128E-5

Trost2022 G

HMCN2

1-0265-004

chr9:
133301160-133301160

G

GTTCCTAC

exonic

De novo

unknown

-

Yuen2017 G
Zhou2022 GE

HMCN2

SP0068139

chr9:
133304956-133304956

G

C

exonic

De novo

unknown

26.2

-

Fu2022 E
Zhou2022 GE

HMCN2

SP0108575

chr9:
133301104-133301104

C

T

exonic

De novo

unknown

17.64

-

Fu2022 E
Zhou2022 GE

HMCN2

SP0009035

chr9:
133306844-133306844

G

A

exonic

De novo

unknown

16.74

-

Fu2022 E
Zhou2022 GE

HMCN2

SP0037051

chr9:
133306843-133306843

C

T

exonic

De novo

unknown

17.69

-

Fu2022 E
Zhou2022 GE

HMCN2

SP0026044

chr9:
133241359-133241359

C

T

exonic

De novo

unknown

-

Fu2022 E

HMCN2

SP0089300

chr9:
133226898-133226898

C

T

exonic

De novo

unknown

-

Fu2022 E

HMCN2

2-0002-005

chr9:
133294197-133294197

G

A

exonic

De novo

unknown

18.63

-

Yuen2017 G
Zhou2022 GE

HMCN2

SP0080553

chr9:
133270648-133270648

G

T

exonic

De novo

unknown

-

Fu2022 E

HMCN2

AU0780302

chr9:
133061129-133061129

C

T

intronic

De novo

-

Yuen2017 G

HMCN2

SP0135229

chr9:
133243669-133243669

C

A

exonic

De novo

unknown

-

Fu2022 E

HMCN2

AU4327303

chr9:
133229347-133229347

G

T

intronic

De novo

-

Yuen2017 G

HMCN2

SP0003632

chr9:
133228385-133228385

C

T

exonic

De novo

unknown

-

Fu2022 E

HMCN2

SP0129201

chr9:
133243823-133243823

C

T

exonic

De novo

unknown

-

Fu2022 E

HMCN2

SP0103857

chr9:
133283125-133283125

A

C

intronic

De novo

-

Fu2022 E

HMCN2

1-0120-003

chr9:
133227067-133227067

C

T

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