Variant Results

or

or

Results for "SLC7A8"

Variant Events: 17

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

SLC7A8

2-0286-003

chr14:
23666749-23666749

C

T

intergenic

De novo

-

-

Yuen2017 G

SLC7A8

5-0003-003

chr14:
23672798-23672798

A

C

intergenic

De novo

-

-

Yuen2017 G

SLC7A8

12388

chr14:
23652077-23652077

G

C

exonic

nonsynonymous SNV

NM_012244

c.C47G

p.P16R

13.47

Cascio2019 T

SLC7A8

1-0459-004

chr14:
23639962-23639962

C

A

intronic

De novo

-

-

Yuen2017 G

SLC7A8

2-0003-003

chr14:
23675562-23675562

G

A

intergenic

De novo

-

-

Yuen2017 G

SLC7A8

1-0330-004

chr14:
23644227-23644227

T

C

intronic

De novo

-

-

Yuen2017 G

SLC7A8

4947

chr14:
23652038-23652038

G

A

exonic

nonsynonymous SNV

NM_012244

c.C86T

p.S29F

18.11

Cascio2019 T

SLC7A8

6320–17673

chr14:
23652072-23652072

C

A

exonic

De novo

nonsynonymous SNV

NM_012244

c.G52T

p.G18W

16.45

Cascio2019 T

SLC7A8

15318

chr14:
23600815-23600815

A

G

intronic

-

-

Cascio2019 T

SLC7A8

AU4284301

chr14:
23641951-23641951

C

T

intronic

De novo

-

-

Yuen2017 G

SLC7A8

1-0509-003

chr14:
23626737-23626737

C

T

intronic

De novo

-

-

Yuen2017 G

SLC7A8

AU3057301

chr14:
23621875-23621875

T

G

intronic

De novo

-

-

Yuen2017 G

SLC7A8

1-0139-005

chr14:
23672854-23672854

A

ATT

intergenic

De novo

-

-

Yuen2017 G

SLC7A8

1-0112-003

chr14:
23672854-23672854

A

ATT

intergenic

De novo

-

-

Yuen2017 G

SLC7A8

AU3891302

chr14:
23646623-23646623

G

C

intronic

De novo

-

-

Yuen2017 G

SLC7A8

SP0140577

chr14:
23608699-23608699

A

G

exonic

De novo

synonymous SNV

NM_001267037
NM_001267036
NM_182728
NM_012244

c.T174C
c.T531C
c.T237C
c.T846C

p.F58F
p.F177F
p.F79F
p.F282F

-

-

Fu2022 E

SLC7A8

SP0077608

chr14:
23652036-23652036

C

A

exonic

De novo

stopgain

NM_012244

c.G88T

p.G30X

44.0

-

Fu2022 E

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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