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Results for "SLC5A12"

Variant Events: 14

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
SLC5A12     AU3506302chr11:
26877506-26877506
ATintergenicDe novo--Yuen2017 G
SLC5A12     AU1894303chr11:
26760871-26760871
TCintergenicDe novo--Yuen2017 G
SLC5A12     AU4069302chr11:
26972084-26972084
CTintergenicDe novo--Yuen2017 G
SLC5A12     14-613chr11:
26729879-26729879
TCintronicDe novo--Trost2022 G
SLC5A12     1-0448-003chr11:
26883841-26883841
CTintergenicDe novo--Yuen2017 G
SLC5A12     AU026412chr11:
26791160-26791160
GAintergenicDe novo--Yuen2017 G
SLC5A12     2-1475-003chr11:
26958677-26958677
TCintergenicDe novo--Yuen2017 G
SLC5A12     13539.p1chr11:
26958732-26958732
TGintergenicDe novo--Turner2016 G
SLC5A12     5-0018-003chr11:
26720140-26720145
GGTCATGintronicDe novo--Trost2022 G
Yuen2017 G
SLC5A12     JASD_Fam0242chr11:
26732893-26732893
CTexonicDe novononsynonymous SNVNM_178498c.G418Ap.G140R33.0-Takata2018 E
SLC5A12     AU2381302chr11:
26743806-26743806
AGupstreamDe novo--Yuen2017 G
SLC5A12     AU1725306chr11:
26746825-26746825
TCintergenicDe novo--Yuen2017 G
SLC5A12     AU3905302chr11:
26742975-26742975
GTexonicMaternalstopgainNM_178498c.C287Ap.S96X40.0-Cirnigliaro2023 G
SLC5A12     09C83617chr11:
26725149-26725149
GAexonicDe novosynonymous SNVNM_178498c.C750Tp.L250L-2.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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