Variant Results

or

Results for "BCHE"

Variant Events: 79

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

BCHE

2-1626-003

chr3:
165540005-165540026

TATGAATGAATGAATGAATGAA

TATGAATGAATGAATGAA

intronic

De novo

-

Yuen2017 G

BCHE

1-0465-003a

chr3:
165886473-165886473

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

AU3849303

chr3:
166660269-166660269

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

1-0804-003

chr3:
166481921-166481921

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

AU3702306

chr3:
165973686-165973686

G

C

intergenic

De novo

-

Yuen2017 G

BCHE

SSC07880

chr3:
165547525-165547525

A

C

exonic

De novo

nonsynonymous SNV

NM_000055

c.T1297G

p.F433V

11.96

-

Fu2022 E
Lim2017 E

BCHE

AU3649305

chr3:
166853247-166853247

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

2-0110-003

chr3:
166736213-166736213

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU060004

chr3:
165705796-165705796

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

3C575

chr3:
165503957-165503957

A

T

exonic

De novo

nonsynonymous SNV

NM_000055

c.T1660A

p.F554I

13.39

-

Fu2022 E
Satterstrom2020 E

BCHE

13580.p1

chr3:
165547525-165547525

A

C

exonic

De novo

nonsynonymous SNV

NM_000055

c.T1297G

p.F433V

11.96

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

BCHE

1-0323-004

chr3:
166391397-166391397

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-1066-004

chr3:
166422794-166422802

TGCTTCCAA

T

intergenic

De novo

-

Yuen2017 G

BCHE

5-0106-003

chr3:
166245593-166245597

TTGTG

TTG

intergenic

De novo

-

Yuen2017 G

BCHE

AU4154303

chr3:
165994111-165994111

C

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU071204

chr3:
166459833-166459833

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

1-0339-003

chr3:
165966945-165966951

GGCTCAA

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-1456-004

chr3:
166646088-166646088

A

ATC

intergenic

De novo

-

Yuen2017 G

BCHE

1-0181-004

chr3:
166163230-166163232

GAA

GA

intergenic

De novo

-

Yuen2017 G

BCHE

2-1163-003

chr3:
165582258-165582258

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BCHE

AU4239301

chr3:
166636987-166636988

AT

A

intergenic

De novo

-

Yuen2017 G

BCHE

2-1281-003

chr3:
166063067-166063067

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

AU1909304

chr3:
165862455-165862455

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

AU3881302

chr3:
166311726-166311726

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

1-0465-003

chr3:
165886473-165886473

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

SP0048244

chr3:
165555154-165555154

A

G

UTR5

De novo

-

Fu2022 E

BCHE

1-0901-004

chr3:
166439140-166439140

A

ATCC

intergenic

De novo

-

Yuen2017 G

BCHE

1-0367-003

chr3:
166521795-166521795

G

T

intergenic

De novo

-

Yuen2017 G

BCHE

7-0104-003

chr3:
166586734-166586734

G

T

intergenic

De novo

-

Yuen2017 G

BCHE

2-0297-003

chr3:
165499622-165499622

A

T

intronic

De novo

-

Yuen2017 G

BCHE

1-0382-003

chr3:
165966945-165966951

GGCTCAA

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-0070-004

chr3:
166250674-166250674

C

A

intergenic

De novo

-

Yuen2017 G

BCHE

1-0585-003

chr3:
165956823-165956823

A

C

intergenic

De novo

-

Yuen2017 G

BCHE

1-0203-003

chr3:
166901268-166901268

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

1-0560-003

chr3:
165900704-165900704

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

2-0045-003

chr3:
165816380-165816380

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BCHE

AU056003

chr3:
165490073-165490073

C

T

downstream

De novo

-

Yuen2017 G

BCHE

AU3866301

chr3:
165747608-165747608

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

AU056003

chr3:
166529083-166529083

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

74-0115

chr3:
165645967-165645967

C

A

intergenic

De novo

-

Michaelson2012 G

BCHE

AU2089301

chr3:
166939549-166939550

AT

A

intergenic

De novo

-

Yuen2017 G

BCHE

74-0075

chr3:
166468365-166468365

T

C

intergenic

De novo

-

Michaelson2012 G

BCHE

2-0270-003

chr3:
166896401-166896401

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

5-0041-003

chr3:
166056763-166056763

T

A

intergenic

De novo

-

Yuen2017 G

BCHE

1-0627-003

chr3:
166912980-166912980

G

T

intergenic

De novo

-

Yuen2017 G

BCHE

AU007503

chr3:
166468365-166468365

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

AU3057302

chr3:
166279396-166279396

C

T

intergenic

De novo

-

Yuen2017 G

BCHE

1-0466-003

chr3:
165677018-165677018

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU3807302

chr3:
166590373-166590373

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-0286-003

chr3:
166285368-166285368

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

1-0051-005

chr3:
165697966-165697966

A

AC

intergenic

De novo

-

Yuen2017 G

BCHE

2-1305-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

BCHE

AU050603

chr3:
166043258-166043258

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

1-0632-003

chr3:
165973231-165973231

A

AT

intergenic

De novo

-

Yuen2017 G

BCHE

AU3506303

chr3:
166763954-166763955

GC

G

intergenic

De novo

-

Yuen2017 G

BCHE

1-0473-003

chr3:
166790453-166790453

A

T

intergenic

De novo

-

Yuen2017 G

BCHE

AU009805

chr3:
165748232-165748232

C

G

intergenic

De novo

-

Yuen2017 G

BCHE

1-0901-003

chr3:
166439140-166439140

A

ATCC

intergenic

De novo

-

Yuen2017 G

BCHE

AU3506303

chr3:
166880077-166880077

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

1-0841-003

chr3:
165607279-165607279

C

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU3051303

chr3:
166839861-166839861

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU2333302

chr3:
166898444-166898444

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

1-0353-003

chr3:
165997250-165997250

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

AU4159302

chr3:
165827750-165827750

A

T

intergenic

De novo

-

Yuen2017 G

BCHE

AU2569301

chr3:
166400941-166400941

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-0289-003

chr3:
166167607-166167607

G

GTAT

intergenic

De novo

-

Yuen2017 G

BCHE

AU3398301

chr3:
166635004-166635004

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

14590.p1

chr3:
166594979-166594979

C

G

intergenic

De novo

-

Turner2016 G

BCHE

2-1194-003

chr3:
166904947-166904947

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

BCHE

AU3997302

chr3:
166454309-166454309

T

G

intergenic

De novo

-

Yuen2017 G

BCHE

1-0339-004

chr3:
165966945-165966951

GGCTCAA

G

intergenic

De novo

-

Yuen2017 G

BCHE

2-1148-004

chr3:
166295525-166295525

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

AU4228302

chr3:
166621769-166621769

A

C

intergenic

De novo

-

Yuen2017 G

BCHE

AU4234302

chr3:
165922055-165922055

G

A

intergenic

De novo

-

Yuen2017 G

BCHE

2-1277-003

chr3:
165871583-165871583

A

T

intergenic

De novo

-

Yuen2017 G

BCHE

1-0300-004

chr3:
166081862-166081862

T

C

intergenic

De novo

-

Yuen2017 G

BCHE

2-1300-003

chr3:
166832204-166832204

C

G

intergenic

De novo

-

Yuen2017 G

BCHE

1-0201-004

chr3:
165654121-165654121

A

G

intergenic

De novo

-

Yuen2017 G

BCHE

AU4365302

chr3:
166453221-166453221

A

G

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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