Variant Results

or

or

Results for "BOC"

Variant Events: 17

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

BOC

2-0256-004

chr3:
112979578-112979578

C

CAGAA

intronic

De novo

-

-

Yuen2017 G

BOC

08C74195

chr3:
112991493-112991493

G

A

exonic

De novo

nonsynonymous SNV

NM_001301861
NM_033254

c.G904A
c.G904A

p.D302N
p.D302N

13.59

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BOC

7-0478-003

chr3:
112987311-112987311

A

G

intronic

De novo

-

-

Trost2022 G

BOC

mAGRE4876

chr3:
113004347-113004349

CAG

C

exonic

Maternal

frameshift deletion

NM_001301861
NM_033254

c.3096_3097del
c.3093_3094del

p.S1032fs
p.S1031fs

-

-

Cirnigliaro2023 G

BOC

mAGRE4497

chr3:
112999940-112999940

C

T

exonic

Maternal

stopgain

NM_001301861
NM_033254

c.C2374T
c.C2371T

p.Q792X
p.Q791X

42.0

-

Cirnigliaro2023 G

BOC

mAGRE2083

chr3:
112991988-112991989

AG

A

exonic

Maternal

frameshift deletion

NM_001301861
NM_033254

c.1035delG
c.1035delG

p.E345fs
p.E345fs

-

-

Cirnigliaro2023 G

BOC

mAGRE2079

chr3:
112991988-112991989

AG

A

exonic

Maternal

frameshift deletion

NM_001301861
NM_033254

c.1035delG
c.1035delG

p.E345fs
p.E345fs

-

-

Cirnigliaro2023 G

BOC

mAGRE4621

chr3:
112989792-112989792

G

A

splicing

Maternal

splicing

25.1

Cirnigliaro2023 G

BOC

1-0906-003

chr3:
112988274-112988274

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

BOC

Al-Mubarak2017:ASD-40

chr3:
112997026-112997026

G

A

exonic

Unknown

nonsynonymous SNV

NM_001301861
NM_033254

c.G1627A
c.G1624A

p.G543R
p.G542R

29.9

Al-Mubarak2017 E

BOC

AU2463301

chr3:
112967349-112967349

G

A

intronic

De novo

-

-

Trost2022 G

BOC

7-0457-004

chr3:
112985006-112985006

G

A

intronic

De novo

-

-

Trost2022 G

BOC

F5832-1

chr3:
112997672-112997672

G

GA

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

BOC

REACH000097

chr3:
112933729-112933729

C

T

intronic

De novo

-

-

Trost2022 G

BOC

iHART2079

chr3:
112991988-112991989

AG

A

exonic

Maternal

frameshift deletion

NM_001301861
NM_033254

c.1035delG
c.1035delG

p.E345fs
p.E345fs

-

-

Ruzzo2019 G

BOC

SP0114416

chr3:
112992171-112992171

T

A

exonic

De novo

nonsynonymous SNV

NM_001301861
NM_033254

c.T1217A
c.T1217A

p.L406Q
p.L406Q

17.98

-

Fu2022 E
Trost2022 G
Zhou2022 GE

BOC

iHART2083

chr3:
112991988-112991989

AG

A

exonic

Maternal

frameshift deletion

NM_001301861
NM_033254

c.1035delG
c.1035delG

p.E345fs
p.E345fs

-

-

Ruzzo2019 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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