Variant Results

or

or

Results for "CORO1C"

Variant Events: 14

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

CORO1C

14415.p1

chr12:
109042371-109042371

T

C

intronic

Mosaic

-

-

Dou2017 E

CORO1C

2-0202-003

chr12:
109100158-109100158

T

TCCAC

intronic

De novo

-

-

Yuen2017 G

CORO1C

2-1509-003

chr12:
109052794-109052825

CAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGA

CAGAGAGAGAGAGAGAAAGAGAGAGAGAGA

intronic

De novo

-

-

Yuen2017 G

CORO1C

AU3839303

chr12:
109124982-109124982

C

A

intronic

De novo

-

-

Yuen2017 G

CORO1C

AU043804

chr12:
109095064-109095064

G

A

exonic

De novo

nonsynonymous SNV

NM_001105237
NM_001276471
NM_014325

c.C190T
c.C31T
c.C31T

p.R64W
p.R11W
p.R11W

24.9

-

Yuen2017 G

CORO1C

AU1987301

chr12:
109051115-109051115

G

A

exonic

De novo

nonsynonymous SNV

NM_001105237
NM_001276471
NM_014325

c.C874T
c.C715T
c.C715T

p.R292C
p.R239C
p.R239C

34.0

-

Yuen2017 G

CORO1C

AU3912302

chr12:
109062731-109062731

C

T

intronic

De novo

-

-

Yuen2017 G

CORO1C

AU4379301

chr12:
109073143-109073143

T

C

intronic

De novo

-

-

Yuen2017 G

CORO1C

2-0202-004

chr12:
109100158-109100158

T

TCCAC

intronic

De novo

-

-

Yuen2017 G

CORO1C

2-1277-003

chr12:
109094300-109094301

TC

T

intronic

De novo

-

-

Yuen2017 G

CORO1C

AU2975302

chr12:
109105203-109105203

C

T

intronic

De novo

-

-

Yuen2017 G

CORO1C

2-1353-003

chr12:
109150560-109150560

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CORO1C

13750.p1

chr12:
109085455-109085455

G

A

intronic

De novo

-

-

Wilfert2021 G

CORO1C

2-1277-003

chr12:
109171475-109171475

G

A

intergenic

De novo

-

-

Yuen2017 G

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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