or
or
Exact

Results for "LMO2"

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
LMO2     1-0473-003chr11:
33879533-33879533
CCGdownstreamDe novo--Trost2022 G
Yuen2017 G
LMO2     AU1848302chr11:
33867937-33867937
GAintergenicDe novo--Yuen2017 G
LMO2     3-0432-000chr11:
33983349-33983349
CGintergenicDe novo--Yuen2017 G
LMO2     3-0326-000chr11:
33908621-33908621
TCintronicDe novo--Trost2022 G
LMO2     AU4250301chr11:
34043796-34043796
TGintergenicDe novo--Yuen2017 G
LMO2     2-1605-003chr11:
33890120-33890121
GAGintronicDe novo--Trost2022 G
Yuen2017 G
LMO2     3-0442-000chr11:
33995972-33995972
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LMO2     AU2950301chr11:
33933033-33933033
GTintergenicDe novo--Yuen2017 G
LMO2     AU3702307chr11:
33831641-33831641
CGintergenicDe novo--Yuen2017 G
LMO2     1-0253-005chr11:
33927987-33927987
TCintergenicDe novo--Yuen2017 G
LMO2     AU4467302chr11:
34003651-34003651
ACintergenicDe novo--Yuen2017 G
LMO2     AU034903chr11:
33825622-33825622
CAintergenicDe novo--Yuen2017 G
LMO2     JASD_Fam0087chr11:
33890952-33890952
CTexonicDe novononsynonymous SNVNM_005574c.G188Ap.G63D15.02-Takata2018 E
LMO2     1-0339-003chr11:
33873696-33873696
GCintergenicDe novo--Yuen2017 G
LMO2     AU3051303chr11:
33864718-33864718
GTintergenicDe novo--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 notesView
More