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Results for "GLIS1"

Variant Events: 25

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
GLIS1     1-0595-004chr1:
54124526-54124526
CTintronicDe novo--Trost2022 G
Yuen2017 G
GLIS1     AU4376301chr1:
54095931-54095931
CTintronicDe novo--Trost2022 G
Yuen2017 G
GLIS1     1-1105-003chr1:
53985936-53985936
GAintronicDe novo--Trost2022 G
GLIS1     MSSNG00202-003chr1:
53976514-53976514
ACintronicDe novo--Trost2022 G
GLIS1     1-1105-003chr1:
54117097-54117097
CTintronicDe novo--Trost2022 G
GLIS1     2-1300-003chr1:
54038059-54038061
ATTAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
GLIS1     MSSNG00256-005chr1:
54062978-54062978
GAintronicDe novo--Trost2022 G
GLIS1     12498.p1chr1:
54045292-54045292
CTintronicDe novo--Turner2016 G
GLIS1     REACH000467chr1:
53972845-53972845
TCintronicDe novo--Trost2022 G
GLIS1     7-0197-003chr1:
54064641-54064641
AGintronicDe novo--Trost2022 G
Yuen2017 G
GLIS1     AU2308301chr1:
54161997-54161997
TCintronicDe novo--Trost2022 G
GLIS1     2-1267-003chr1:
54165182-54165182
ATintronicDe novo--Trost2022 G
Yuen2017 G
GLIS1     AU2308301chr1:
54161993-54161993
TAintronicDe novo--Trost2022 G
GLIS1     13298.p1chr1:
54155966-54155966
CTintronicDe novo--Turner2016 G
GLIS1     AU2308301chr1:
54162000-54162000
CAintronicDe novo--Trost2022 G
GLIS1     2-1235-003chr1:
54152022-54152024
ACTCAGintronicDe novo--Trost2022 G
GLIS1     7-0257-003chr1:
54123292-54123292
GTintronicDe novo--Trost2022 G
GLIS1     AU2308301chr1:
54161991-54161991
TCintronicDe novo--Trost2022 G
GLIS1     MT_121.3chr1:
54156037-54156037
GTintronicDe novo--Trost2022 G
GLIS1     2-1480-003chr1:
54144507-54144507
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GLIS1     2-0018-004chr1:
54222917-54222917
ATintergenicDe novo--Yuen2017 G
GLIS1     AU056003chr1:
54166108-54166108
GAintronicDe novo--Yuen2017 G
GLIS1     AU2525302chr1:
54215289-54215289
AGintergenicDe novo--Yuen2017 G
GLIS1     1-0453-003chr1:
54106708-54106708
CAintronicDe novo--Trost2022 G
Yuen2017 G
GLIS1     JASD_Fam0025chr1:
53974866-53974866
GAexonicDe novosynonymous SNVNM_147193c.C1632Tp.V544V-1.812E-5Takata2018 E
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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