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Results for "NCOA6"

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
NCOA6     12286.p1chr20:
33330216-33330216
CTexonicMosaicnonsynonymous SNVNM_014071c.G3844Ap.A1282T25.3-Dou2017 E
Krupp2017 E
NCOA6     AU1355301chr20:
33313213-33313213
AGintronicDe novo--Yuen2017 G
NCOA6     AU2000304chr20:
33418500-33418500
ATintergenicDe novo--Yuen2017 G
NCOA6     NP129chr20:
33345644-33345644
GAexonicDe novostopgainNM_001242539
NM_014071
c.C907T
c.C907T
p.R303X
p.R303X
54.0-Lim2017 E
Satterstrom2020 E
NCOA6     1-0286-004chr20:
33326395-33326395
TCintronicDe novo--Yuen2017 G
NCOA6     AU4028302chr20:
33329249-33329249
TCexonicDe novononsynonymous SNVNM_014071c.A4811Gp.N1604S15.861.647E-5Yuen2017 G
NCOA6     7-0222-003chr20:
33332631-33332631
TCintronicDe novo--Yuen2017 G
NCOA6     AU002405chr20:
33365796-33365796
CTintronicDe novo--Yuen2017 G
NCOA6     JASD_Fam0147chr20:
33345644-33345644
GAexonicDe novostopgainNM_001242539
NM_014071
c.C907T
c.C907T
p.R303X
p.R303X
54.0-Takata2018 E
NCOA6     12435.p1chr20:
33324595-33324595
TAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
NCOA6     2-1239-003chr20:
33390030-33390030
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NCOA6     Lim2017:70282chr20:
33330216-33330216
CTexonicMosaicnonsynonymous SNVNM_014071c.G3844Ap.A1282T25.3-Lim2017 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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