or
or
Exact

Results for "SLC15A3"

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
SLC15A3     AU3907301chr11:
60718529-60718530
CACexonicPaternalframeshift deletionNM_016582c.494delTp.L165fs-7.0E-4Cirnigliaro2023 G
SLC15A3     AU3913302chr11:
60716364-60716364
CTintronicDe novo--Yuen2017 G
SLC15A3     SP0134469chr11:
60708544-60708544
ATintronicDe novo--Fu2022 E
Trost2022 G
SLC15A3     SP0087429chr11:
60718807-60718807
TGexonicDe novononsynonymous SNVNM_016582c.A217Cp.T73P8.1139.0E-4Trost2022 G
Zhou2022 GE
SLC15A3     2-1485-003chr11:
60714922-60714934
ATTACAGGCGTGACintronicDe novo--Trost2022 G
SLC15A3     SP0090613chr11:
60718972-60718972
GAexonicDe novononsynonymous SNVNM_016582c.C52Tp.P18S17.78-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SLC15A3     1-0514-003chr11:
60714438-60714438
ATintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SLC15A3     SP0151784chr11:
60714282-60714282
GAexonicDe novosynonymous SNVNM_016582c.C570Tp.L190L-8.591E-6Trost2022 G
SLC15A3     AU3907302chr11:
60718529-60718530
CACexonicPaternalframeshift deletionNM_016582c.494delTp.L165fs-7.0E-4Cirnigliaro2023 G
Source Variant Information

, -

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
More