or
or
Exact

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     iHART1894chr14:
24031571-24031573
CATCexonicPaternalframeshift deletionNM_001282474
NM_001282475
NM_003917
c.409_410del
c.1336_1337del
c.1552_1553del
p.M137fs
p.M446fs
p.M518fs
-3.295E-5Ruzzo2019 G
AP1G2     iHART1891chr14:
24031571-24031573
CATCexonicPaternalframeshift deletionNM_001282474
NM_001282475
NM_003917
c.409_410del
c.1336_1337del
c.1552_1553del
p.M137fs
p.M446fs
p.M518fs
-3.295E-5Ruzzo2019 G
AP1G2     Wang2023:796chr14:
24036350-24036350
GTexonicDe novononsynonymous SNVNM_003917c.C174Ap.H58Q19.64-Wang2023 E
AP1G2     2-1167-003chr14:
24034327-24034327
CTsplicingDe novosplicing16.57-Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE
AP1G2     F5249-1chr14:
24031265-24031265
GTexonicDe novononsynonymous SNVNM_001282474
NM_001282475
NM_003917
c.C496A
c.C1423A
c.C1639A
p.Q166K
p.Q475K
p.Q547K
5.572-Montenegro2019 E
AP1G2     SP0001948chr14:
24031588-24031588
CTexonicDe novononsynonymous SNVNM_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
AP1G2     mAGRE5161chr14:
24033343-24033343
GAexonicMaternalstopgainNM_001282475
NM_003917
c.C787T
c.C1003T
p.R263X
p.R335X
42.04.187E-5Cirnigliaro2023 G
AP1G2     mAGRE1894chr14:
24031571-24031573
CATCexonicPaternalframeshift deletionNM_001282474
NM_001282475
NM_003917
c.409_410del
c.1336_1337del
c.1552_1553del
p.M137fs
p.M446fs
p.M518fs
-3.295E-5Cirnigliaro2023 G
AP1G2     TRE_2282chr14:
24034395-24034395
CTexonicDe novononsynonymous SNVNM_001282475
NM_003917
c.G539A
c.G755A
p.R180H
p.R252H
28.31.681E-5Fu2022 E
AP1G2     mAGRE1891chr14:
24031571-24031573
CATCexonicPaternalframeshift deletionNM_001282474
NM_001282475
NM_003917
c.409_410del
c.1336_1337del
c.1552_1553del
p.M137fs
p.M446fs
p.M518fs
-3.295E-5Cirnigliaro2023 G
AP1G2     mAGRE5871chr14:
24029243-24029245
ACTAexonicPaternalframeshift deletionNM_001282474
NM_001282475
NM_003917
c.1015_1016del
c.1942_1943del
c.2158_2159del
p.S339fs
p.S648fs
p.S720fs
--Cirnigliaro2023 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 notesView
More