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Results for "SLC16A12"

Variant Events: 14

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
SLC16A12     2-1509-003chr10:
91290275-91290275
TCintronicDe novo--Yuen2017 G
SLC16A12     1-0898-003chr10:
91204443-91204443
TCintronicDe novo--Yuen2017 G
SLC16A12     5-0073-003chr10:
91315270-91315270
AGintergenicDe novo--Yuen2017 G
SLC16A12     5-0073-003chr10:
91315280-91315280
GAintergenicDe novo--Yuen2017 G
SLC16A12     JASD_Fam0204chr10:
91198564-91198564
GAexonicDe novosynonymous SNVNM_213606c.C825Tp.Y275Y--Takata2018 E
SLC16A12     1-0092-004chr10:
91308156-91308156
AGintergenicDe novo--Yuen2017 G
SLC16A12     AU047703chr10:
91274122-91274122
GAintronicDe novo--Yuen2017 G
SLC16A12     11194.p1chr10:
91325635-91325635
TGintergenicDe novo--Turner2016 G
SLC16A12     2-1237-003chr10:
91336640-91336640
GTintergenicDe novo--Yuen2017 G
SLC16A12     AU0780301chr10:
91288727-91288727
TCintronicDe novo--Yuen2017 G
SLC16A12     1-0041-003chr10:
91208729-91208735
CAGAGAGCAGintronicDe novo--Yuen2017 G
SLC16A12     1-0495-003chr10:
91297262-91297262
TCintergenicDe novo--Yuen2017 G
SLC16A12     AU030804chr10:
91315254-91315255
GTGTGTATintergenicDe novo--Yuen2017 G
SLC16A12     AU051503chr10:
91205088-91205088
GTintronicDe 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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