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Results for "Cascio2019"

Variant Events: 16

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
SLC7A5     17410chr16:
87873449-87873449		GAintronicDe novo-1.674E-5Cascio2019 T
SLC7A5     10471chr16:
87871468-87871468		GTexonicDe novononsynonymous SNVNM_003486c.C1123Ap.P375T17.35-Cascio2019 T
SLC7A8     12388chr14:
23652077-23652077		GCexonicnonsynonymous SNVNM_012244c.C47Gp.P16R13.470.001Cascio2019 T
SLC7A5     15301chr16:
87870060-87870060		CTintronicDe novo-8.47E-6Cascio2019 T
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
SLC7A5     9754–12388–12970chr16:
87874736-87874736		GCexonicnonsynonymous SNVNM_003486c.C690Gp.N230K0.0140.0046Cascio2019 T
SLC7A5     14988chr16:
87874736-87874736		GCexonicnonsynonymous SNVNM_003486c.C690Gp.N230K0.0140.0046Cascio2019 T
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
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
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