Variant Results

or

Results for "APBA1"

Variant Events: 30

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

APBA1

7-0460-003

chr9:
72149895-72149895

G

A

intronic

De novo

-

Trost2022 G

APBA1

1-0357-003

chr9:
72249455-72249455

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

1-0947-003

chr9:
72192866-72192866

T

C

intronic

De novo

-

Trost2022 G

APBA1

MSSNG00439-004

chr9:
72092180-72092180

G

A

intronic

De novo

-

Trost2022 G

APBA1

3-0346-000

chr9:
72137088-72137088

G

A

intronic

De novo

-

Trost2022 G

APBA1

AU2075301

chr9:
72319947-72319947

A

G

intergenic

De novo

-

Yuen2017 G

APBA1

7-0392-003

chr9:
72089279-72089280

CA

C

intronic

De novo

-

Trost2022 G

APBA1

2-1506-003

chr9:
72294314-72294327

CCTCTCTCTCTCTC

CCTCTCTCTCTC

intergenic

De novo

-

Yuen2017 G

APBA1

SP0015237

chr9:
72082871-72082871

G

A

exonic

De novo

synonymous SNV

NM_001163

c.C1350T

p.C450C

-

3.305E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

APBA1

1-0976-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

APBA1

SJD_66.3

chr9:
72287865-72287865

C

T

upstream

De novo

-

Trost2022 G

APBA1

SP0136593

chr9:
72046210-72046210

G

A

UTR3

De novo

-

Fu2022 E

APBA1

MSSNG00256-005

chr9:
72240347-72240347

C

T

intronic

De novo

-

Trost2022 G

APBA1

2-0197-004

chr9:
72080561-72080561

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

AU2717301

chr9:
72284508-72284508

A

AT

intronic

De novo

-

Trost2022 G

APBA1

4-0062-003

chr9:
72194715-72194716

AG

TC

intronic

De novo

-

Trost2022 G

APBA1

MSSNG00028-003

chr9:
72198480-72198480

T

G

intronic

De novo

-

Trost2022 G

APBA1

12382.p1

chr9:
72046230-72046230

C

T

UTR3

De novo

-

6.102E-5

Krumm2015 E
Satterstrom2020 E
Trost2022 G

APBA1

AU4435301

chr9:
72070016-72070016

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

2-1277-003

chr9:
72078237-72078237

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

20-0427226-19

chr9:
72131916-72131916

G

C

exonic

De novo

nonsynonymous SNV

NM_001163

c.C211G

p.R71G

8.58

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

APBA1

1-0757-003

chr9:
72241334-72241334

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

AU4234303

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

APBA1

11333.p1

chr9:
72047457-72047457

C

T

exonic

De novo

nonsynonymous SNV

NM_001163

c.G2437A

p.G813R

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
Zhou2022 GE

APBA1

11558.p1

chr9:
72131524-72131524

T

A

exonic

De novo

synonymous SNV

NM_001163

c.A603T

p.I201I

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

APBA1

5-0099-003

chr9:
72154337-72154337

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBA1

SSC01947

chr9:
72131524-72131524

T

A

exonic

De novo

synonymous SNV

NM_001163

c.A603T

p.I201I

-

Fu2022 E
Lim2017 E
Trost2022 G

APBA1

1-0560-003

chr9:
72219189-72219201

GGCACGCATGCAC

GGCAC

intronic

De novo

-

Yuen2017 G

APBA1

SSC00314

chr9:
72047457-72047457

C

T

exonic

De novo

nonsynonymous SNV

NM_001163

c.G2437A

p.G813R

34.0

-

Fu2022 E
Lim2017 E
Trost2022 G

APBA1

AU039304

chr9:
72314165-72314165

C

T

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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