Variant Results

or

Results for "BICC1"

Variant Events: 55

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

BICC1

4-0111-003

chr10:
60513242-60513242

T

G

intronic

De novo

-

Trost2022 G

BICC1

3-0067-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

BICC1

3-0752-000

chr10:
60501079-60501079

G

T

intronic

De novo

-

Trost2022 G

BICC1

MSSNG00345-003

chr10:
60454936-60454936

A

G

intronic

De novo

-

Trost2022 G

BICC1

MSSNG00249-003

chr10:
60467040-60467040

G

A

intronic

De novo

-

Trost2022 G

BICC1

1-0604-003

chr10:
60562577-60562577

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

AU2770301

chr10:
60441704-60441704

G

A

intronic

De novo

-

Trost2022 G

BICC1

7-0240-004

chr10:
60453694-60453694

A

C

intronic

De novo

-

Trost2022 G

BICC1

13543.p1

chr10:
60329920-60329920

G

A

intronic

De novo

-

Turner2016 G

BICC1

AU4211304

chr10:
60520787-60520788

TA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

MSSNG00366-004

chr10:
60590949-60590949

T

C

UTR3

De novo

-

Trost2022 G

BICC1

SP0245102

chr10:
60582944-60582944

C

T

intronic

De novo

-

Trost2022 G

BICC1

SP0097547

chr10:
60583738-60583738

G

A

intronic

De novo

-

Trost2022 G

BICC1

AU2224301

chr10:
60542649-60542649

G

A

intronic

De novo

-

Trost2022 G

BICC1

1-1134-004

chr10:
60543662-60543662

C

G

intronic

De novo

-

Trost2022 G

BICC1

7-0255-003

chr10:
60548857-60548857

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

AU4159301

chr10:
60554893-60554893

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

AU070703

chr10:
60673976-60673976

C

G

intergenic

De novo

-

Yuen2017 G

BICC1

1-0403-004

chr10:
60749969-60749969

C

T

intergenic

De novo

-

Yuen2017 G

BICC1

2-1213-003

chr10:
60397901-60397901

G

T

intronic

De novo

-

Yuen2017 G

BICC1

1-0336-004

chr10:
60347589-60347589

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

2-1339-003

chr10:
60401391-60401391

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

AU4150301

chr10:
60400496-60400496

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

1-0104-003

chr10:
60518610-60518610

G

GCAT

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

2-0129-004

chr10:
60482095-60482095

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

12367_p1

chr10:
60558214-60558214

C

G

exonic

De novo

synonymous SNV

NM_001080512

c.C1422G

p.L474L

-

Fu2022 E

BICC1

AU4024303

chr10:
60382343-60382343

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

5-0050-003

chr10:
60534418-60534418

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

2-1366-003

chr10:
60613685-60613685

A

T

intergenic

De novo

-

Yuen2017 G

BICC1

1-0522-003

chr10:
60732922-60732922

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BICC1

2-1094-005

chr10:
60410566-60410566

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

AU1698301

chr10:
60577008-60577008

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

Lee2014:1

chr10:
60549454-60549454

A

G

exonic

De novo

nonsynonymous SNV

NM_001080512

c.A808G

p.M270V

9.073

1.648E-5

Lee2014 E

BICC1

2-0238-004

chr10:
60604333-60604333

C

T

intergenic

De novo

-

Yuen2017 G

BICC1

Lee2014:2

chr10:
60549454-60549454

A

G

exonic

De novo

nonsynonymous SNV

NM_001080512

c.A808G

p.M270V

9.073

1.648E-5

Lee2014 E

BICC1

12367.p1

chr10:
60558214-60558214

C

G

exonic

De novo

synonymous SNV

NM_001080512

c.C1422G

p.L474L

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

BICC1

1-0986-003

chr10:
60463483-60463483

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

657-05-104554

chr10:
60273012-60273012

G

A

exonic

De novo

nonsynonymous SNV

NM_001080512

c.G109A

p.A37T

13.5

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BICC1

1-0466-003

chr10:
60743530-60743530

A

T

intergenic

De novo

-

Yuen2017 G

BICC1

1-1083-003

chr10:
60319038-60319038

C

T

intronic

De novo

-

Trost2022 G

BICC1

MSSNG00015-004

chr10:
60327406-60327406

A

G

intronic

De novo

-

Trost2022 G

BICC1

AU2495301

chr10:
60406032-60406032

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BICC1

7-0274-003

chr10:
60289693-60289696

AATG

A

intronic

De novo

-

Trost2022 G

BICC1

A29

chr10:
60370530-60370530

C

T

intronic

De novo

-

Wu2018 G

BICC1

5-0085-003

chr10:
60299340-60299340

A

G

intronic

De novo

-

Trost2022 G

BICC1

AU1860301

chr10:
60399597-60399597

C

G

intronic

De novo

-

Trost2022 G

BICC1

11099.p1

chr10:
60362806-60362806

C

G

intronic

De novo

-

Werling2018 G

BICC1

MSSNG00421-008

chr10:
60435632-60435632

C

G

intronic

De novo

-

Trost2022 G

BICC1

1-0079-004

chr10:
60351356-60351356

T

G

intronic

De novo

-

Trost2022 G

BICC1

5-5209-003

chr10:
60355892-60355892

C

A

intronic

De novo

-

Trost2022 G

BICC1

2-1497-003

chr10:
60657219-60657219

A

T

intergenic

De novo

-

Yuen2017 G

BICC1

1-0141-003

chr10:
60338504-60338504

C

A

intronic

De novo

-

Trost2022 G

BICC1

3-0543-000

chr10:
60338670-60338670

A

G

intronic

De novo

-

Trost2022 G

BICC1

3-0640-000

chr10:
60331747-60331747

G

A

intronic

De novo

-

Trost2022 G

BICC1

7-0442-003

chr10:
60336952-60336952

G

A

intronic

De novo

-

Trost2022 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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