Variant Results

or

Results for "APOB"

Variant Events: 14

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

APOB

AU3937301

chr2:
21284994-21284994

T

C

intergenic

De novo

-

Yuen2017 G

APOB

14039_p1

chr2:
21225612-21225612

G

C

exonic

De novo

nonsynonymous SNV

NM_000384

c.C12682G

p.L4228V

11.48

-

Fu2022 E

APOB

12851.p1

chr2:
21229930-21229930

G

A

exonic

De novo

synonymous SNV

NM_000384

c.C9810T

p.F3270F

-

1.0E-4

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

APOB

Chen2017:84

chr2:
21229188-21229188

T

G

exonic

De novo

nonsynonymous SNV

NM_000384

c.A10552C

p.N3518H

13.02

-

Chen2017 E

APOB

14039.p1

chr2:
21225612-21225612

G

C

exonic

Mosaic, De novo

nonsynonymous SNV

NM_000384

c.C12682G

p.L4228V

11.48

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

APOB

SSC06297

chr2:
21229930-21229930

G

A

exonic

De novo

synonymous SNV

NM_000384

c.C9810T

p.F3270F

-

1.0E-4

Fu2022 E

APOB

1-0494-003

chr2:
21261470-21261470

A

T

intronic

De novo

-

Yuen2017 G

APOB

AU3368303

chr2:
21228955-21228955

T

G

exonic

De novo

nonsynonymous SNV

NM_000384

c.A10785C

p.Q3595H

10.84

-

Yuen2017 G

APOB

AU4197301

chr2:
21293017-21293017

T

C

intergenic

De novo

-

Yuen2017 G

APOB

08C74292

chr2:
21255235-21255235

G

A

exonic

De novo

nonsynonymous SNV

NM_000384

c.C1343T

p.A448V

6.648

4.973E-5

Fu2022 E
Satterstrom2020 E

APOB

1-0494-003A

chr2:
21261470-21261470

A

T

intronic

De novo

-

Yuen2017 G

APOB

1483JS0022

chr2:
21229188-21229188

T

G

exonic

De novo

nonsynonymous SNV

NM_000384

c.A10552C

p.N3518H

13.02

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

APOB

iHART2424

chr2:
21225264-21225266

CAT

C

exonic

Maternal

frameshift deletion

NM_000384

c.13028_13029del

p.Y4343fs

-

2.539E-5

Ruzzo2019 G

APOB

1660021

chr2:
21237365-21237365

A

G

exonic

De novo

nonsynonymous SNV

NM_000384

c.T3797C

p.M1266T

5.157

8.238E-6

Fu2022 E
Satterstrom2020 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
	More