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Results for "SLC3A1"

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
SLC3A1     AU2863302chr2:
44525671-44525671
CTintronicDe novo--Trost2022 G
Yuen2017 G
SLC3A1     mAGRE4328chr2:
44547468-44547469
CACexonicPaternalframeshift deletionNM_000341c.1749delAp.T583fs-3.296E-5Cirnigliaro2023 G
SLC3A1     G01-GEA-132-HIchr2:
44539763-44539763
GCexonicDe novononsynonymous SNVNM_000341c.G1371Cp.L457F6.543-Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC3A1     1-0113-003chr2:
44539707-44539707
ACintronicDe novo--Yuen2016 G
SLC3A1     AU0636303chr2:
44502784-44502784
CTexonicDe novononsynonymous SNVNM_000341c.C110Tp.P37L15.098.299E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
SLC3A1     SP0046549chr2:
44528112-44528112
AGintronicDe novo--Fu2022 E
Trost2022 G
SLC3A1     12948.p1chr2:
44508705-44508706
CACintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
SLC3A1     SP0041146chr2:
44528231-44528231
CTexonicDe novosynonymous SNVNM_000341c.C1101Tp.T367T--Fu2022 E
Trost2022 G
Zhou2022 GE
SLC3A1     111289chr2:
44539747-44539747
GAexonicnonsynonymous SNVNM_000341c.G1355Ap.R452Q35.08.241E-6Woodbury-Smith2022 E
Source Variant Information

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Source:

Paper alias:

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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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