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Results for "GIPR"

Variant Events: 4

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
GIPR     JASD_Fam0155chr19:
46180216-46180216
GAexonicDe novononsynonymous SNVNM_001308418
NM_000164
c.G535A
c.G643A
p.A179T
p.A215T
14.0-Takata2018 E
GIPR     iHART1526chr19:
46180630-46180630
CGexonicPaternalstopgainNM_001308418
NM_000164
c.C735G
c.C843G
p.Y245X
p.Y281X
35.05.0E-4Ruzzo2019 G
GIPR     ASP022chr19:
46180216-46180216
GAexonicDe novononsynonymous SNVNM_001308418
NM_000164
c.G535A
c.G643A
p.A179T
p.A215T
14.0-Lim2017 E
Satterstrom2020 E
GIPR     237-09-111440chr19:
46176152-46176152
AGexonicDe novosynonymous SNVNM_001308418
NM_000164
c.A216G
c.A324G
p.Q72Q
p.Q108Q
-9.062E-5Satterstrom2020 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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