Variant Results

or

Results for "BAZ1B"

Variant Events: 12

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

BAZ1B

AU1542303

chr7:
72902233-72902233

T

C

intronic

De novo

-

Yuen2017 G

BAZ1B

Codina-Sola2015:ASD_13

chr7:
72891652-72891654

ATT

A

exonic

Maternal

frameshift deletion

NM_032408

c.2137_2138del

p.N713fs

-

Codina-Sola2015 E

BAZ1B

AC05-0017-01

chr7:
72877273-72877273

T

C

exonic

De novo

synonymous SNV

NM_032408

c.A3228G

p.E1076E

-

Lim2017 E

BAZ1B

AU3712302

chr7:
72868637-72868637

G

C

intronic

De novo

-

Yuen2017 G

BAZ1B

AU060803

chr7:
72877367-72877367

C

A

exonic

De novo

nonsynonymous SNV

NM_032408

c.G3134T

p.C1045F

24.2

-

Yuen2017 G

BAZ1B

SP0112122

chr7:
72891283-72891283

T

C

exonic

De novo

synonymous SNV

NM_032408

c.A2508G

p.E836E

-

Fu2022 E

BAZ1B

2-1114-003

chr7:
72910266-72910266

A

C

intronic

De novo

-

Yuen2017 G

BAZ1B

1-0450-003

chr7:
72941702-72941702

A

T

intergenic

De novo

-

Yuen2017 G

BAZ1B

255-04-100812

chr7:
72884688-72884688

G

A

exonic

De novo

stopgain

NM_032408

c.C2719T

p.R907X

43.0

-

Fu2022 E
Satterstrom2020 E

BAZ1B

09C97170

chr7:
72892108-72892108

T

A

exonic

De novo

nonsynonymous SNV

NM_032408

c.A1683T

p.K561N

15.44

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

BAZ1B

2-0145-003

chr7:
72910700-72910700

G

A

intronic

De novo

-

Yuen2017 G

BAZ1B

AU1521301

chr7:
72879633-72879633

A

G

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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