Variant Results

or

Results for "B3GNTL1"

Variant Events: 33

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

B3GNTL1

3-0078-000

chr17:
80989391-80989391

C

T

intronic

De novo

-

Trost2022 G

B3GNTL1

3-0216-000

chr17:
80963262-80963262

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

B3GNTL1

AU3702306

chr17:
81026019-81026019

C

G

intergenic

De novo

-

Yuen2017 G

B3GNTL1

mAGRE4835

chr17:
80901927-80901927

T

C

splicing

Maternal

splicing

-

Cirnigliaro2023 G

B3GNTL1

AU4015301

chr17:
81027733-81027733

G

C

intergenic

De novo

-

Yuen2017 G

B3GNTL1

532-05-104341

chr17:
81009678-81009678

C

CG

UTR5

De novo

-

Satterstrom2020 E
Trost2022 G

B3GNTL1

74-0117

chr17:
80975663-80975663

C

T

intronic

Unknown

-

Michaelson2012 G

B3GNTL1

PN400546

chr17:
81006427-81006427

A

G

exonic

De novo

nonsynonymous SNV

NM_001009905

c.T197C

p.I66T

16.64

2.471E-5

Leblond2019 E

B3GNTL1

2-0242-004

chr17:
80976451-80976451

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

B3GNTL1

AU011704

chr17:
80975663-80975663

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

B3GNTL1

1-0901-004

chr17:
80901065-80901071

ACACTGT

GCCCAGG

downstream

De novo

-

Trost2022 G

B3GNTL1

1-0901-004

chr17:
80901074-80901079

TAGGAG

CTCCTA

downstream

De novo

-

Trost2022 G

B3GNTL1

1-0585-003

chr17:
81012996-81013005

GGAGACAGAG

GGAG

intergenic

De novo

-

Yuen2017 G

B3GNTL1

SP0091972

chr17:
80904885-80904885

A

C

intronic

De novo

-

Fu2022 E

B3GNTL1

SP0058417

chr17:
81006386-81006386

C

T

exonic

nonsynonymous SNV

NM_001009905

c.G238A

p.V80M

15.4

-

Zhou2022 GE

B3GNTL1

4-0062-003

chr17:
80947873-80947874

AA

TC

intronic

De novo

-

Trost2022 G

B3GNTL1

5-5131-003

chr17:
80962552-80962552

C

T

intronic

De novo

-

Trost2022 G

B3GNTL1

2-0299-005

chr17:
80940320-80940322

AAT

GAA

intronic

De novo

-

Trost2022 G

B3GNTL1

2-1336-003

chr17:
80940437-80940437

A

AATG

intronic

De novo

-

Trost2022 G

B3GNTL1

1-0925-003

chr17:
80921914-80921914

G

T

intronic

De novo

-

Trost2022 G

B3GNTL1

7-0379-003

chr17:
80930132-80930132

G

A

intronic

De novo

-

Trost2022 G

B3GNTL1

1-0651-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G
Yuen2017 G

B3GNTL1

SP0141624

chr17:
80904889-80904889

C

G

intronic

De novo

-

Trost2022 G

B3GNTL1

5-5180-003

chr17:
80918314-80918314

G

A

intronic

De novo

-

Trost2022 G

B3GNTL1

2-1389-003

chr17:
80984479-80984479

A

C

intronic

De novo

-

Trost2022 G

B3GNTL1

AU0636303

chr17:
80984807-80984807

A

G

intronic

De novo

-

Trost2022 G

B3GNTL1

1-0452-005

chr17:
80980994-80980994

G

A

intronic

De novo

-

Trost2022 G

B3GNTL1

1-1215-003

chr17:
80982535-80982535

C

T

intronic

De novo

-

Trost2022 G

B3GNTL1

SP0084317

chr17:
80963811-80963811

T

G

intronic

De novo

-

Trost2022 G

B3GNTL1

2-1407-003

chr17:
80945319-80945319

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

B3GNTL1

SP0117421

chr17:
80963811-80963811

T

G

intronic

De novo

-

Trost2022 G

B3GNTL1

5-0100-003

chr17:
80962683-80962683

C

T

intronic

De novo

-

Trost2022 G

B3GNTL1

SP0036774

chr17:
80963811-80963811

T

G

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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