or
or
Exact

Results for "AMIGO1"

Variant Events: 8

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
AMIGO1     200675742_1082034788chr1:
110050709-110050709
GAexonicDe novononsynonymous SNVNM_020703c.C826Tp.R276C8.787-Fu2022 E
AMIGO1     2-1430-003chr1:
110073848-110073848
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
AMIGO1     1-1165-003chr1:
110051091-110051091
CGexonicDe novosynonymous SNVNM_020703c.G444Cp.A148A--Trost2022 G
Zhou2022 GE
AMIGO1     1-0496-003chr1:
110071065-110071065
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
AMIGO1     Chen2017:123chr1:
110050709-110050709
GAexonicDe novononsynonymous SNVNM_020703c.C826Tp.R276C8.787-Chen2017 E
AMIGO1     SP0006321chr1:
110051168-110051168
GAexonicDe novononsynonymous SNVNM_020703c.C367Tp.R123C13.12-Fu2022 E
Trost2022 G
Zhou2022 GE
AMIGO1     Kim2020:B34chr1:
110050180-110050180
CAexonicDe novononsynonymous SNVNM_020703c.G1355Tp.G452V16.01-Kim2020 E
AMIGO1     SP0143639chr1:
110050187-110050187
CTexonicDe novononsynonymous SNVNM_020703c.G1348Ap.G450R10.13-Trost2022 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