Variant Results

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or

Results for "AP2M1"

Variant Events: 15

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

AP2M1

AU4056301

chr3:
183899531-183899531

T

C

exonic

De novo

nonsynonymous SNV

NM_001025205

c.T749C

p.V250A

24.4

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AP2M1

Wang2023:802

chr3:
183898715-183898715

C

T

exonic

De novo

nonsynonymous SNV

NM_001025205

c.C502T

p.R168W

22.8

-

Wang2023 E

AP2M1

133338

chr3:
183894812-183894812

A

G

exonic

nonsynonymous SNV

NM_001025205

c.A31G

p.K11E

36.0

-

Woodbury-Smith2022 E

AP2M1

SSC10837

chr3:
183899699-183899699

G

C

splicing

De novo

splicing

15.38

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

AP2M1

iHART3272

chr3:
183899531-183899531

T

C

exonic

De novo

nonsynonymous SNV

NM_001025205

c.T749C

p.V250A

24.4

-

Ruzzo2019 G

AP2M1

mAGRE4278

chr3:
183898715-183898715

C

T

exonic

De novo

nonsynonymous SNV

NM_001025205

c.C502T

p.R168W

22.8

-

Cirnigliaro2023 G

AP2M1

1-0590-003

chr3:
183900610-183900610

A

C

exonic

De novo

nonsynonymous SNV

NM_001025205

c.A1121C

p.N374T

8.997

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AP2M1

14276.p1

chr3:
183899699-183899699

G

C

splicing

Mosaic Mat., De novo

splicing

15.38

-

Dou2017 E
Satterstrom2020 E

AP2M1

SP0097208

chr3:
183898680-183898680

A

G

exonic

De novo

nonsynonymous SNV

NM_001025205

c.A467G

p.Q156R

26.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

AP2M1

14009.p1

chr3:
183899869-183899869

T

C

intronic

De novo

-

-

Satterstrom2020 E

AP2M1

AU3885304

chr3:
183899187-183899187

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

AP2M1

SSC10360

chr3:
183899869-183899869

T

C

intronic

De novo

-

-

Trost2022 G

AP2M1

SP0124730

chr3:
183898697-183898697

G

A

exonic

De novo

nonsynonymous SNV

NM_001025205

c.G484A

p.E162K

35.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

AP2M1

7-0059-003

chr3:
183892413-183892413

C

T

upstream

De novo

-

-

Yuen2017 G

AP2M1

AU3712302

chr3:
183895508-183895508

C

G

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
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