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Results for "NCOA7"

Variant Events: 12

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
NCOA7     1-0006-004chr6:
126183175-126183175
CTintronicDe novo--Yuen2017 G
NCOA7     5-0017-004chr6:
126183175-126183175
CTintronicDe novo--Yuen2017 G
NCOA7     2-1005-003chr6:
126106646-126106646
TCintronicDe novo--Yuen2017 G
NCOA7     7-0103-003chr6:
126181418-126181418
AGintronicDe novo--Yuen2017 G
NCOA7     2-0149-004chr6:
126183170-126183170
TCintronicDe novo--Yuen2017 G
NCOA7     AU0452303chr6:
126218755-126218755
AGintronicDe novo--Yuen2017 G
NCOA7     AU1542303chr6:
126178795-126178795
CTintronicDe novo--Yuen2017 G
NCOA7     AU3760301chr6:
126140061-126140061
GAintronicDe novo--Yuen2017 G
NCOA7     2-0143-004chr6:
126183175-126183175
CTintronicDe novo--Yuen2017 G
NCOA7     2-0198-005chr6:
126187218-126187218
GAintronicDe novo--Yuen2017 G
NCOA7     80001103867chr6:
126210778-126210778
CGexonicstopgainNM_001199621
NM_001122842
NM_181782
NM_001199619
NM_001199620
c.C1233G
c.C1545G
c.C1578G
c.C1578G
c.C1578G
p.Y411X
p.Y515X
p.Y526X
p.Y526X
p.Y526X
37.02.515E-5Doan2019 E
NCOA7     1-0347-003chr6:
126187218-126187218
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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