Variant Results

or

or

Results for "AP3D1"

Variant Events: 21

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

AP3D1

13171.p1

chr19:
2135041-2135041

C

T

intronic

De novo

-

-

Turner2016 G

AP3D1

SP0125666

chr19:
2121804-2121804

G

C

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.C1030G
c.C1030G

p.L344V
p.L344V

25.4

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AP3D1

12793.p1

chr19:
2135492-2135492

G

A

intronic

De novo

-

-

Turner2016 G

AP3D1

2-1378-003

chr19:
2132764-2132764

G

A

intronic

De novo

-

-

Yuen2017 G

AP3D1

13171.p1

chr19:
2135034-2135034

T

C

intronic

De novo

-

-

Turner2016 G

AP3D1

13322.p1

chr19:
2118556-2118556

A

AG

intronic

De novo

-

-

Satterstrom2020 E

AP3D1

SP0204354

chr19:
2130460-2130460

G

A

exonic

nonsynonymous SNV

NM_001261826
NM_003938

c.C539T
c.C539T

p.S180L
p.S180L

28.3

-

Zhou2022 GE

AP3D1

JASD_Fam0041

chr19:
2137725-2137725

C

A

splicing

De novo

splicing

20.1

-

Takata2018 E

AP3D1

5-0071-003

chr19:
2126243-2126243

A

AAG

intronic

De novo

-

-

Trost2022 G

AP3D1

2-1686-003

chr19:
2144130-2144136

AGGAAAG

A

intronic

De novo

-

-

Trost2022 G

AP3D1

4-0088-003

chr19:
2113882-2113882

G

C

intronic

De novo

-

-

Trost2022 G

AP3D1

SSC07028

chr19:
2118556-2118556

A

AG

intronic

De novo

-

-

Trost2022 G

AP3D1

MSSNG00258-004

chr19:
2104489-2104489

A

T

intronic

De novo

-

-

Trost2022 G

AP3D1

MSSNG00258-004

chr19:
2104503-2104503

G

A

intronic

De novo

-

-

Trost2022 G

AP3D1

Wang2023:527

chr19:
2132486-2132486

T

C

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.A446G
c.A446G

p.N149S
p.N149S

16.96

-

Wang2023 E

AP3D1

DEASD_3027_001

chr19:
2130521-2130521

G

T

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.C478A
c.C478A

p.P160T
p.P160T

18.55

-

Fu2022 E

AP3D1

SSC06985

chr19:
2121195-2121195

T

C

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.A1217G
c.A1217G

p.Q406R
p.Q406R

18.02

-

Fu2022 E
Lim2017 E
Trost2022 G

AP3D1

MSSNG00367-004

chr19:
2149960-2149960

G

C

intronic

De novo

-

-

Trost2022 G

AP3D1

13187.p1

chr19:
2121195-2121195

T

C

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.A1217G
c.A1217G

p.Q406R
p.Q406R

18.02

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

AP3D1

3D263

chr19:
2130490-2130490

A

G

exonic

De novo

nonsynonymous SNV

NM_001261826
NM_003938

c.T509C
c.T509C

p.M170T
p.M170T

15.5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

AP3D1

AU4188302

chr19:
2144514-2144514

C

T

intronic

De novo

-

-

Trost2022 G
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
	More