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Results for "SLC38A11"

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
SLC38A11     74-0265chr2:
165901252-165901252
GAintergenicInherited--Michaelson2012 G
SLC38A11     SP0113060chr2:
165755096-165755096
CTexonicDe novononsynonymous SNVNM_173512
NM_001199148
c.G1006A
c.G1072A
p.V336I
p.V358I
8.0281.653E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SLC38A11     mAGRE4389chr2:
165802236-165802236
GGTCexonicMaternalframeshift insertionNM_001199148
NM_173512
c.62_63insGA
c.62_63insGA
p.D21fs
p.D21fs
-2.0E-4Cirnigliaro2023 G
SLC38A11     5-0114-003chr2:
165766721-165766721
TCintronicDe novo--Trost2022 G
Yuen2017 G
SLC38A11     AU4089301chr2:
165802236-165802236
GGTCexonicPaternalframeshift insertionNM_001199148
NM_173512
c.62_63insGA
c.62_63insGA
p.D21fs
p.D21fs
-2.0E-4Cirnigliaro2023 G
SLC38A11     mAGRE5946chr2:
165765164-165765166
CTACexonicMaternalframeshift deletionNM_173512
NM_001199148
c.845_846del
c.911_912del
p.I282fs
p.I304fs
--Cirnigliaro2023 G
SLC38A11     mAGRE5887chr2:
165755094-165755094
GGAexonicMaternalframeshift insertionNM_173512
NM_001199148
c.1007dupT
c.1073dupT
p.V336fs
p.V358fs
-8.268E-6Cirnigliaro2023 G
SLC38A11     SJD_50.3chr2:
165754502-165754502
TAdownstreamDe novo--Trost2022 G
SLC38A11     1-0868-003chr2:
165865040-165865040
ACintergenicDe novo--Yuen2017 G
SLC38A11     AU072905 Complex Event; expand row to view variants  De novo--Trost2022 G
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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