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Results for "SLC2A14"

Variant Events: 10

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
SLC2A14     13608.p1chr12:
7970433-7970433
AGexonicMosaicsynonymous SNVNM_001286236
NM_001286237
NM_001286234
NM_153449
NM_001286235
NM_001286233
c.T1011C
c.T1383C
c.T1269C
c.T1338C
c.T1269C
c.T1338C
p.S337S
p.S461S
p.S423S
p.S446S
p.S423S
p.S446S
-3.0E-4Krupp2017 E
SLC2A14     2-1437-004chr12:
8044327-8044327
TCupstreamDe novo--Yuen2017 G
SLC2A14     2-0145-004chr12:
7982529-7982529
CTexonicDe novononsynonymous SNVNM_001286236
NM_001286237
NM_001286234
NM_153449
NM_001286235
NM_001286233
c.G88A
c.G460A
c.G346A
c.G415A
c.G346A
c.G415A
p.E30K
p.E154K
p.E116K
p.E139K
p.E116K
p.E139K
0.048-Yuen2017 G
SLC2A14     14416.p1chr12:
7996557-7996562
GTCTTTGintronicPaternal--Wilfert2021 G
SLC2A14     1-0169-003chr12:
8033818-8033818
CTintronicDe novo--Yuen2017 G
SLC2A14     5-0021-003chr12:
7969993-7969993
GAintronicDe novo--Yuen2017 G
SLC2A14     2-1510-003chr12:
8067517-8067517
GAintergenicDe novo--Yuen2017 G
SLC2A14     AU4033304chr12:
7985933-7985933
TCintronicDe novo--Yuen2017 G
SLC2A14     7902-03-003chr12:
7981319-7981319
TCexonicDe novosynonymous SNVNM_001286236
NM_001286237
NM_001286234
NM_153449
NM_001286235
NM_001286233
c.A399G
c.A771G
c.A657G
c.A726G
c.A657G
c.A726G
p.K133K
p.K257K
p.K219K
p.K242K
p.K219K
p.K242K
--Satterstrom2020 E
SLC2A14     1-0186-004chr12:
7985898-7985898
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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