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Results for "GBF1"

Variant Events: 10

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
GBF1     7-0254-004chr10:
104010132-104010132
TCintronicDe novo--Yuen2017 G
GBF1     08C74627chr10:
104130496-104130496
GAexonicDe novononsynonymous SNVNM_001199378
NM_001199379
NM_004193
c.G3539A
c.G3536A
c.G3536A
p.R1180Q
p.R1179Q
p.R1179Q
26.15.767E-5Satterstrom2020 E
GBF1     2-1365-003chr10:
104115728-104115728
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GBF1     2-0007-003chr10:
104140360-104140360
CTexonicDe novononsynonymous SNVNM_001199378
NM_001199379
NM_004193
c.C5078T
c.C5075T
c.C5087T
p.A1693V
p.A1692V
p.A1696V
13.93-Yuen2015 G
Yuen2017 G
GBF1     AC02-1177-01chr10:
104123570-104123570
TCintronicDe novo-8.0E-4Kosmicki2017 E
Satterstrom2020 E
GBF1     3-0005-000chr10:
104129511-104129511
GAexonicDe novononsynonymous SNVNM_001199378
NM_001199379
NM_004193
c.G3194A
c.G3191A
c.G3191A
p.R1065Q
p.R1064Q
p.R1064Q
25.72.472E-5Tammimies2015 E
GBF1     AU4237304chr10:
104041844-104041844
CTintronicDe novo--Yuen2017 G
GBF1     2-1239-003chr10:
104091869-104091869
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GBF1     2-1594-003chr10:
104133080-104133080
CGintronicDe novo--Yuen2017 G
GBF1     AU2293301chr10:
104082053-104082053
GAintronicDe 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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