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Results for "GPR139"

Variant Events: 17

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
GPR139     PN400527chr16:
20043060-20043060
CTexonicDe novosynonymous SNVNM_001002911c.G1059Ap.P353P-6.67E-5Leblond2019 E
GPR139     2-0299-003chr16:
20182529-20182529
CTintergenicDe novo--Yuen2017 G
GPR139     1-0385-003chr16:
20237197-20237197
GCintergenicDe novo--Yuen2017 G
GPR139     1-0625-003chr16:
20267020-20267020
CTintergenicDe novo--Yuen2017 G
GPR139     1-0559-005chr16:
20248173-20248173
GAintergenicDe novo--Yuen2017 G
GPR139     1-0677-003chr16:
20160724-20160724
CTintergenicDe novo--Yuen2017 G
GPR139     2-0132-004chr16:
20303449-20303449
CTintergenicDe novo--Yuen2017 G
GPR139     Codina-Sola2015:ASD_16chr16:
20043242-20043242
GAexonicPaternalnonsynonymous SNVNM_001002911c.C877Tp.R293C22.34.942E-5Codina-Sola2015 E
GPR139     AU3779301chr16:
20149092-20149092
CTintergenicDe novo--Yuen2017 G
GPR139     SSC04150chr16:
20043668-20043668
TCexonicDe novononsynonymous SNVNM_001002911c.A451Gp.S151G1.631-Lim2017 E
GPR139     1-0203-004chr16:
20192680-20192680
GAintergenicDe novo--Yuen2017 G
GPR139     3-0431-000chr16:
20311347-20311347
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
GPR139     5-0077-004chr16:
20079040-20079040
CTintronicDe novo--Yuen2017 G
GPR139     AU3984302chr16:
20089287-20089287
CAintergenicDe novo--Yuen2017 G
GPR139     12325.p1chr16:
20043668-20043668
TCexonicDe novononsynonymous SNVNM_001002911c.A451Gp.S151G1.631-Iossifov2014 E
Kosmicki2017 E
Wilfert2021 G
GPR139     2-0088-003chr16:
20259512-20259512
GAintergenicDe novo--Yuen2017 G
GPR139     2-1725-003chr16:
20086109-20086109
AGintergenicDe 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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