Variant Results

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Results for "AP1G2"

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

AP1G2

iHART1894

chr14:
24031571-24031573

CAT

C

exonic

Paternal

frameshift deletion

NM_001282474
NM_001282475
NM_003917

c.409_410del
c.1336_1337del
c.1552_1553del

p.M137fs
p.M446fs
p.M518fs

-

Ruzzo2019 G

AP1G2

iHART1891

chr14:
24031571-24031573

CAT

C

exonic

Paternal

frameshift deletion

NM_001282474
NM_001282475
NM_003917

c.409_410del
c.1336_1337del
c.1552_1553del

p.M137fs
p.M446fs
p.M518fs

-

Ruzzo2019 G

AP1G2

Wang2023:796

chr14:
24036350-24036350

G

T

exonic

De novo

nonsynonymous SNV

NM_003917

c.C174A

p.H58Q

19.64

-

Wang2023 E

AP1G2

2-1167-003

chr14:
24034327-24034327

C

T

splicing

De novo

splicing

16.57

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

AP1G2

F5249-1

chr14:
24031265-24031265

G

T

exonic

De novo

nonsynonymous SNV

NM_001282474
NM_001282475
NM_003917

c.C496A
c.C1423A
c.C1639A

p.Q166K
p.Q475K
p.Q547K

5.572

-

Montenegro2019 E

AP1G2

mAGRE5161

chr14:
24033343-24033343

G

A

exonic

Maternal

stopgain

NM_001282475
NM_003917

c.C787T
c.C1003T

p.R263X
p.R335X

42.0

Cirnigliaro2023 G

AP1G2

mAGRE1894

chr14:
24031571-24031573

CAT

C

exonic

Paternal

frameshift deletion

NM_001282474
NM_001282475
NM_003917

c.409_410del
c.1336_1337del
c.1552_1553del

p.M137fs
p.M446fs
p.M518fs

-

Cirnigliaro2023 G

AP1G2

TRE_2282

chr14:
24034395-24034395

C

T

exonic

De novo

nonsynonymous SNV

NM_001282475
NM_003917

c.G539A
c.G755A

p.R180H
p.R252H

28.3

Fu2022 E

AP1G2

mAGRE1891

chr14:
24031571-24031573

CAT

C

exonic

Paternal

frameshift deletion

NM_001282474
NM_001282475
NM_003917

c.409_410del
c.1336_1337del
c.1552_1553del

p.M137fs
p.M446fs
p.M518fs

-

Cirnigliaro2023 G

AP1G2

mAGRE5871

chr14:
24029243-24029245

ACT

A

exonic

Paternal

frameshift deletion

NM_001282474
NM_001282475
NM_003917

c.1015_1016del
c.1942_1943del
c.2158_2159del

p.S339fs
p.S648fs
p.S720fs

-

-

Cirnigliaro2023 G

AP1G2

SP0001948

chr14:
24031588-24031588

C

T

exonic

De novo

nonsynonymous SNV

NM_001282474
NM_001282475
NM_003917

c.G394A
c.G1321A
c.G1537A

p.V132M
p.V441M
p.V513M

16.73

-

Fu2022 E
Trost2022 G
Zhou2022 GE

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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