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Results for "GPRIN2"

Variant Events: 11

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
GPRIN2     2-0043-003chr10:
47021769-47021769
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GPRIN2     13775.p1chr10:
46998925-46998925
CGexonicDe novononsynonymous SNVNM_014696c.C45Gp.S15R14.226.528E-5Ji2016 E
Krumm2015 E
GPRIN2     2-1455-003chr10:
47032253-47032253
AGintergenicDe novo--Yuen2016 G
GPRIN2     AU079605chr10:
46993994-46993994
CGintronicDe novo--Yuen2017 G
GPRIN2     AU1795301chr10:
47045004-47045004
TCintergenicDe novo--Yuen2017 G
GPRIN2     2-1427-003chr10:
47072509-47072509
GAintergenicDe novo--Yuen2017 G
GPRIN2     AU079605chr10:
47046422-47046422
GAintergenicDe novo--Yuen2017 G
GPRIN2     AU079605chr10:
47058534-47058534
GTintergenicDe novo--Yuen2017 G
GPRIN2     AU4024303chr10:
47005514-47005519
CTTTTTCTTTTintergenicDe novo--Yuen2017 G
GPRIN2     1-0497-003chr10:
47072097-47072097
CAintergenicDe novo--Yuen2017 G
GPRIN2     1-0073-003chr10:
46993897-46993897
ACintronicDe novo--Yuen2017 G
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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