Variant Results

or

Results for "APBB1"

Variant Events: 11

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

APBB1

2-1363-003

chr11:
6433008-6433008

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

APBB1

14535.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689
NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.1033dupG
c.916dupG
c.1027dupG
c.988dupG
c.916dupG
c.1693dupG
c.916dupG
c.1687dupG
c.1032dupG
c.915dupG
c.1026dupG
c.987dupG
c.915dupG
c.1692dupG
c.915dupG
c.1686dupG

p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs
p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

APBB1

PN400386

chr11:
6416850-6416850

G

A

exonic

Unknown

nonsynonymous SNV

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.C1387T
c.C1270T
c.C1381T
c.C1342T
c.C1270T
c.C2047T
c.C1270T
c.C2041T

p.R463W
p.R424W
p.R461W
p.R448W
p.R424W
p.R683W
p.R424W
p.R681W

18.61

6.0E-4

Leblond2019 E

APBB1

7-0298-004

chr11:
6436770-6436770

A

C

intronic

De novo

-

Trost2022 G

APBB1

SSC12143

chr11:
6417424-6417424

G

GC

exonic

frameshift insertion

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.1033dupG
c.916dupG
c.1027dupG
c.988dupG
c.916dupG
c.1693dupG
c.916dupG
c.1687dupG

p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs

-

Antaki2022 GE

APBB1

74-0355

chr11:
6422669-6422669

G

A

intronic

De novo

-

3.0E-4

Michaelson2012 G

APBB1

A1378B

chr11:
6417395-6417395

G

A

exonic

De novo

nonsynonymous SNV

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.C1063T
c.C946T
c.C1057T
c.C1018T
c.C946T
c.C1723T
c.C946T
c.C1717T

p.R355C
p.R316C
p.R353C
p.R340C
p.R316C
p.R575C
p.R316C
p.R573C

17.93

-

Fu2022 E

APBB1

2-1322-004

chr11:
6426305-6426305

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

APBB1

36807

chr11:
6417424-6417424

G

GC

exonic

De novo

frameshift insertion

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.1033dupG
c.916dupG
c.1027dupG
c.988dupG
c.916dupG
c.1693dupG
c.916dupG
c.1687dupG

p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs

-

Fu2022 E
Trost2022 G

APBB1

SP0055280

chr11:
6423310-6423310

A

G

splicing;exonic

De novo

nonsynonymous SNV

NM_001257319
NM_001257320
NM_001257325
NM_001257326
NM_001164
NM_001257321

c.T724C
c.T607C
c.T679C
c.T607C
c.T1384C
c.T607C

p.W242R
p.W203R
p.W227R
p.W203R
p.W462R
p.W203R

13.15

-

Fu2022 E
Trost2022 G
Zhou2022 GE

APBB1

C230403

chr11:
6424927-6424927

G

C

exonic

De novo

nonsynonymous SNV

NM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689

c.C187G
c.C70G
c.C187G
c.C142G
c.C70G
c.C847G
c.C70G
c.C847G

p.P63A
p.P24A
p.P63A
p.P48A
p.P24A
p.P283A
p.P24A
p.P283A

22.4

-

Fu2022 E

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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