Variant Results

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or

Results for "SLC7A5"

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

SLC7A5

17410

chr16:
87873449-87873449

G

A

intronic

De novo

-

Cascio2019 T

SLC7A5

AU2495301

chr16:
87909731-87909731

T

G

intergenic

De novo

-

-

Yuen2017 G

SLC7A5

10471

chr16:
87871468-87871468

G

T

exonic

De novo

nonsynonymous SNV

NM_003486

c.C1123A

p.P375T

17.35

-

Cascio2019 T

SLC7A5

15301

chr16:
87870060-87870060

C

T

intronic

De novo

-

Cascio2019 T

SLC7A5

9754–12388–12970

chr16:
87874736-87874736

G

C

exonic

nonsynonymous SNV

NM_003486

c.C690G

p.N230K

0.014

Cascio2019 T

SLC7A5

14988

chr16:
87874736-87874736

G

C

exonic

nonsynonymous SNV

NM_003486

c.C690G

p.N230K

0.014

Cascio2019 T

SLC7A5

PN400115

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

PN400190

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

PN400505

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

PN400215

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

PN400219

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

PN400521

chr16:
87885387-87885387

C

T

exonic

Unknown

nonsynonymous SNV

NM_003486

c.G607A

p.A203T

32.0

Leblond2019 E

SLC7A5

2-1421-003

chr16:
87913170-87913170

G

T

intergenic

De novo

-

-

Yuen2017 G

SLC7A5

AU2415301

chr16:
87866576-87866589

CTATGTCTCCTGGG

C

exonic

De novo

frameshift deletion

NM_003486

c.1511_1523del

p.P504fs

-

-

Trost2022 G
Zhou2022 GE

SLC7A5

1-0589-003

chr16:
87869365-87869365

C

T

intronic

De novo

-

-

Trost2022 G

SLC7A5

AU031404

chr16:
87862972-87862972

G

C

downstream

De novo

-

-

Trost2022 G

Source Variant Information

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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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