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Results for "SLC3A2"

Variant Events: 9

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
SLC3A2     1-0534-006chr11:
62667742-62667744
CAGCintergenicDe novo--Yuen2017 G
SLC3A2     1-0606-003chr11:
62645201-62645201
CGintronicDe novo--Yuen2017 G
SLC3A2     17226–9754–18454chr11:
62655878-62655878
CTexonicsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.C1303T
c.C1420T
c.C1609T
c.C1606T
p.L435L
p.L474L
p.L537L
p.L536L
-0.0072Cascio2019 T
SLC3A2     15294chr11:
62648786-62648786
TGexonicsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.T291G
c.T408G
c.T597G
c.T594G
p.A97A
p.A136A
p.A199A
p.A198A
10.690.0017Cascio2019 T
SLC3A2     17843chr11:
62652950-62652950
GTexonicnonsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.G1013T
c.G1130T
c.G1319T
c.G1316T
p.R338M
p.R377M
p.R440M
p.R439M
17.660.003Cascio2019 T
SLC3A2     18454chr11:
62651962-62651962
GTexonicnonsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.G724T
c.G841T
c.G1030T
c.G1027T
p.D242Y
p.D281Y
p.D344Y
p.D343Y
18.84-Cascio2019 T
SLC3A2     17550chr11:
62623747-62623747
GAexonicDe novosynonymous SNVNM_001012662
NM_001012664
NM_002394
c.G6A
c.G6A
c.G6A
p.E2E
p.E2E
p.E2E
-6.676E-5Cascio2019 T
SLC3A2     17410chr11:
62652986-62652986
GAexonicnonsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.G1049A
c.G1166A
c.G1355A
c.G1352A
p.R350Q
p.R389Q
p.R452Q
p.R451Q
23.31.0E-4Cascio2019 T
SLC3A2     12382chr11:
62649463-62649463
GAexonicnonsynonymous SNVNM_001013251
NM_001012664
NM_001012662
NM_002394
c.G523A
c.G640A
c.G829A
c.G826A
p.D175N
p.D214N
p.D277N
p.D276N
8.1617.0E-4Cascio2019 T
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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