Variant Results

or

or

Results for "BCO1"

Variant Events: 16

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

BCO1

1-0336-003

chr16:
81310894-81310894

C

T

intronic

De novo

-

-

Yuen2017 G

BCO1

AU2495302

chr16:
81320371-81320371

G

A

intronic

De novo

-

-

Yuen2017 G

BCO1

12083.p1

chr16:
81301524-81301524

C

A

exonic

De novo

nonsynonymous SNV

NM_017429

c.C631A

p.Q211K

0.023

-

Krumm2015 E
Satterstrom2020 E

BCO1

1-0336-003

chr16:
81298538-81298538

C

G

intronic

De novo

-

-

Yuen2017 G

BCO1

12103.p1

chr16:
81295822-81295822

C

T

exonic

Mosaic

synonymous SNV

NM_017429

c.C405T

p.F135F

-

-

Dou2017 E
Krupp2017 E

BCO1

AU4283301

chr16:
81288626-81288626

G

A

intronic

De novo

-

-

Yuen2017 G

BCO1

AU4027306

chr16:
81293144-81293144

G

A

intronic

De novo

-

-

Yuen2017 G

BCO1

iHART1378

chr16:
81295825-81295825

C

A

exonic

Maternal

stopgain

NM_017429

c.C408A

p.Y136X

22.7

Ruzzo2019 G

BCO1

1-0772-003

chr16:
81271958-81271958

C

A

upstream

De novo

-

-

Yuen2017 G

BCO1

2-0713-003

chr16:
81344473-81344473

C

T

intergenic

De novo

-

-

Yuen2017 G

BCO1

AU076705

chr16:
81330642-81330642

C

G

intergenic

De novo

-

-

Yuen2017 G

BCO1

5-0021-003

chr16:
81323781-81323781

T

C

intronic

De novo

-

-

Yuen2017 G

BCO1

AU3782303

chr16:
81295712-81295712

T

G

intronic

De novo

-

-

Yuen2017 G

BCO1

AU3765303

chr16:
81317819-81317834

CTATATATATATATAT

CTATATATATATAT

intronic

De novo

-

-

Yuen2017 G

BCO1

2-0318-004

chr16:
81305085-81305085

C

T

intronic

De novo

-

-

Yuen2017 G

BCO1

SSC03793

chr16:
81301524-81301524

C

A

exonic

De novo

nonsynonymous SNV

NM_017429

c.C631A

p.Q211K

0.023

-

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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