Variant Results

or

or

Results for "SLC7A14"

Variant Events: 20

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

SLC7A14

A16

chr3:
170364444-170364444

A

G

intergenic

De novo

-

-

Wu2018 G

SLC7A14

7-0024-005

chr3:
170226639-170226639

G

A

intronic

De novo

-

-

Yuen2017 G

SLC7A14

2-0256-004

chr3:
170423531-170423531

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

1-0513-003

chr3:
170526030-170526030

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLC7A14

2-0022-003

chr3:
170236132-170236132

T

C

intronic

De novo

-

-

Yuen2017 G

SLC7A14

1-0231-004

chr3:
170274312-170274324

ATAGTAGGGTTTT

A

intronic

De novo

-

-

Yuen2017 G

SLC7A14

AU4188302

chr3:
170286274-170286274

C

T

intronic

De novo

-

-

Yuen2017 G

SLC7A14

AU025704

chr3:
170445655-170445655

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

AU3905301

chr3:
170257818-170257818

G

A

intronic

De novo

-

-

Yuen2017 G

SLC7A14

1-0572-003

chr3:
170578564-170578576

CCTCTCTCTCTCT

CCTCTCTCTCT

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

iHART2244

chr3:
170201176-170201176

C

CT

exonic

Maternal

frameshift insertion

NM_020949

c.1041dupA

p.V348fs

-

-

Ruzzo2019 G

SLC7A14

AU060403

chr3:
170283487-170283487

A

C

intronic

De novo

-

-

Yuen2017 G

SLC7A14

AU3853302

chr3:
170339948-170339948

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

2-1434-003

chr3:
170333090-170333098

CTTTTTTTT

CTTTTTT

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

1-0019-004

chr3:
170565917-170565917

G

GCCCCA

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

1-0547-003

chr3:
170532810-170532843

ATCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT

ATCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT

intergenic

De novo

-

-

Yuen2017 G

SLC7A14

AU1308303

chr3:
170244076-170244076

A

G

intronic

De novo

-

-

Yuen2017 G

SLC7A14

2-1313-003

chr3:
170510372-170510372

A

T

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

SLC7A14

5-0147-003

chr3:
170198367-170198367

G

A

exonic

De novo

synonymous SNV

NM_020949

c.C1704T

p.C568C

-

Yuen2017 G

SLC7A14

AU3794302

chr3:
170221846-170221846

A

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