Variant Results

or

Results for "BBX"

Variant Events: 34

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

BBX

11775.p1

chr3:
107317912-107317912

T

C

intronic

De novo

-

Wilfert2021 G

BBX

7-0135-003

chr3:
107360709-107360709

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

AU3997301

chr3:
107475216-107475216

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

MSSNG00037-003

chr3:
107298331-107298331

G

A

intronic

De novo

-

Trost2022 G

BBX

1-1215-003

chr3:
107325564-107325564

C

T

intronic

De novo

-

Trost2022 G

BBX

SJD_27.3

chr3:
107254133-107254133

A

G

intronic

De novo

-

Trost2022 G

BBX

4-0062-003

chr3:
107462223-107462224

CA

TT

intronic

De novo

-

Trost2022 G

BBX

Wang2023:231

chr3:
107524234-107524234

C

T

exonic

De novo

nonsynonymous SNV

NM_001276286
NM_020235
NM_001142568

c.C1747T
c.C2666T
c.C2756T

p.R583C
p.P889L
p.P919L

11.61

8.274E-6

Wang2023 E

BBX

MSSNG00014-004

chr3:
107483340-107483340

C

A

intronic

De novo

-

Trost2022 G

BBX

5-0076-003

chr3:
107370839-107370839

C

T

intronic

De novo

-

Trost2022 G

BBX

1-0903-004

chr3:
107404508-107404508

C

T

intronic

De novo

-

Trost2022 G

BBX

5-5040-003

chr3:
107355189-107355189

G

A

intronic

De novo

-

Trost2022 G

BBX

AU009904

chr3:
107371619-107371619

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

SP0142323

chr3:
107474528-107474528

A

C

intronic

-

Zhou2022 GE

BBX

MSSNG00127-003

chr3:
107369428-107369428

C

T

intronic

De novo

-

Trost2022 G

BBX

MSSNG00013-004

chr3:
107333886-107333886

G

A

intronic

De novo

-

Trost2022 G

BBX

MSSNG00367-003

chr3:
107339656-107339656

G

A

intronic

De novo

-

Trost2022 G

BBX

1-0261-003

chr3:
107510651-107510656

TAGCCT

CAACATGGTGA

intronic

De novo

-

Trost2022 G

BBX

7-0387-003

chr3:
107514059-107514059

A

G

intronic

De novo

-

Trost2022 G

BBX

1-0043-004

chr3:
107459933-107459933

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

3-0709-000

chr3:
107502732-107502732

G

A

intronic

De novo

-

Trost2022 G

BBX

1-0261-004

chr3:
107510651-107510656

TAGCCT

CAACATGGTGA

intronic

De novo

-

Trost2022 G

BBX

1-0568-003

chr3:
107494840-107494841

TT

AA

intronic

De novo

-

Trost2022 G

BBX

1-1102-003

chr3:
107498525-107498527

AAG

A

intronic

De novo

-

Trost2022 G

BBX

3-0438-000

chr3:
107335681-107335681

C

T

intronic

De novo

-

Yuen2016 G

BBX

SP0069091

chr3:
107497319-107497320

AG

A

exonic

De novo

frameshift deletion

NM_001276286
NM_001142568
NM_020235

c.1148delG
c.2157delG
c.2157delG

p.R383fs
p.K719fs
p.K719fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

BBX

1-0558-003

chr3:
107531009-107531023

GGAGAGAGAGAGAGA

GGAGAGAGAGAGA

downstream

De novo

-

Yuen2017 G

BBX

1-0339-004

chr3:
107515155-107515155

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

7-0102-003

chr3:
107466631-107466636

GTTTTT

GTTTT

intronic

De novo

-

Yuen2017 G

BBX

1-0455-004

chr3:
107532771-107532771

T

C

intergenic

De novo

-

Yuen2017 G

BBX

2-1174-006

chr3:
107322738-107322738

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BBX

AU4067301

chr3:
107547652-107547652

T

G

intergenic

De novo

-

Yuen2017 G

BBX

133338

chr3:
107497312-107497312

A

G

exonic

nonsynonymous SNV

NM_001142568
NM_020235

c.A2149G
c.A2149G

p.R717G
p.R717G

27.3

8.266E-6

Woodbury-Smith2022 E

BBX

AU072905

chr3:
107416534-107416534

G

A

intronic

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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