Variant Results

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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.p1

chr20:
33330216-33330216

C

T

exonic

Mosaic

nonsynonymous SNV

NM_014071

c.G3844A

p.A1282T

25.3

-

Dou2017 E
Krupp2017 E

NCOA6

AU1355301

chr20:
33313213-33313213

A

G

intronic

De novo

-

-

Yuen2017 G

NCOA6

AU2000304

chr20:
33418500-33418500

A

T

intergenic

De novo

-

-

Yuen2017 G

NCOA6

NP129

chr20:
33345644-33345644

G

A

exonic

De novo

stopgain

NM_001242539
NM_014071

c.C907T
c.C907T

p.R303X
p.R303X

54.0

-

Lim2017 E
Satterstrom2020 E

NCOA6

1-0286-004

chr20:
33326395-33326395

T

C

intronic

De novo

-

-

Yuen2017 G

NCOA6

AU4028302

chr20:
33329249-33329249

T

C

exonic

De novo

nonsynonymous SNV

NM_014071

c.A4811G

p.N1604S

15.86

Yuen2017 G

NCOA6

7-0222-003

chr20:
33332631-33332631

T

C

intronic

De novo

-

-

Yuen2017 G

NCOA6

AU002405

chr20:
33365796-33365796

C

T

intronic

De novo

-

-

Yuen2017 G

NCOA6

JASD_Fam0147

chr20:
33345644-33345644

G

A

exonic

De novo

stopgain

NM_001242539
NM_014071

c.C907T
c.C907T

p.R303X
p.R303X

54.0

-

Takata2018 E

NCOA6

12435.p1

chr20:
33324595-33324595

T

A

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

NCOA6

2-1239-003

chr20:
33390030-33390030

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NCOA6

Lim2017:70282

chr20:
33330216-33330216

C

T

exonic

Mosaic

nonsynonymous SNV

NM_014071

c.G3844A

p.A1282T

25.3

-

Lim2017 E

Source Variant Information

, -

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 notes	View
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