or
or
Exact

Results for "AP2M1"

Variant Events: 10

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     AU4056301chr3:
183899531-183899531
TCexonicDe novononsynonymous SNVNM_001025205c.T749Cp.V250A24.4-Yuen2017 G
AP2M1     SSC10837chr3:
183899699-183899699
GCsplicingDe novosplicing15.38-Lim2017 E
AP2M1     iHART3272chr3:
183899531-183899531
TCexonicDe novononsynonymous SNVNM_001025205c.T749Cp.V250A24.4-Ruzzo2019 G
AP2M1     1-0590-003chr3:
183900610-183900610
ACexonicDe novononsynonymous SNVNM_001025205c.A1121Cp.N374T8.997-Yuen2017 G
AP2M1     14276.p1chr3:
183899699-183899699
GCsplicingMosaic Mat., De novosplicing15.38-Dou2017 E
Satterstrom2020 E
AP2M1     14009.p1chr3:
183899869-183899869
TCintronicDe novo--Satterstrom2020 E
AP2M1     AU3885304chr3:
183899187-183899187
CTintronicDe novo--Yuen2017 G
AP2M1     7-0059-003chr3:
183892413-183892413
CTupstreamDe novo--Yuen2017 G
AP2M1     AU3712302chr3:
183895508-183895508
CGintronicDe novo--Yuen2017 G
AP2M1     133338chr3:
183894812-183894812
AGexonicnonsynonymous SNVNM_001025205c.A31Gp.K11E36.0-Woodbury-Smith2022 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 notesView
More