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Results for "SLC7A8"

Variant Events: 15

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     2-0286-003chr14:
23666749-23666749
CTintergenicDe novo--Yuen2017 G
SLC7A8     5-0003-003chr14:
23672798-23672798
ACintergenicDe novo--Yuen2017 G
SLC7A8     12388chr14:
23652077-23652077
GCexonicnonsynonymous SNVNM_012244c.C47Gp.P16R13.470.001Cascio2019 T
SLC7A8     1-0459-004chr14:
23639962-23639962
CAintronicDe novo--Yuen2017 G
SLC7A8     2-0003-003chr14:
23675562-23675562
GAintergenicDe novo--Yuen2017 G
SLC7A8     1-0330-004chr14:
23644227-23644227
TCintronicDe novo--Yuen2017 G
SLC7A8     4947chr14:
23652038-23652038
GAexonicnonsynonymous SNVNM_012244c.C86Tp.S29F18.110.008Cascio2019 T
SLC7A8     6320–17673chr14:
23652072-23652072
CAexonicDe novononsynonymous SNVNM_012244c.G52Tp.G18W16.450.0017Cascio2019 T
SLC7A8     15318chr14:
23600815-23600815
AGintronic--Cascio2019 T
SLC7A8     AU4284301chr14:
23641951-23641951
CTintronicDe novo--Yuen2017 G
SLC7A8     1-0509-003chr14:
23626737-23626737
CTintronicDe novo--Yuen2017 G
SLC7A8     AU3057301chr14:
23621875-23621875
TGintronicDe novo--Yuen2017 G
SLC7A8     1-0139-005chr14:
23672854-23672854
AATTintergenicDe novo--Yuen2017 G
SLC7A8     1-0112-003chr14:
23672854-23672854
AATTintergenicDe novo--Yuen2017 G
SLC7A8     AU3891302chr14:
23646623-23646623
GCintronicDe novo--Yuen2017 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 notesView
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