or
or
Exact

Results for "LTN1"

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
LTN1     11843.p1chr21:
30318550-30318550
CAexonicMosaic Pat., De novostopgainNM_015565c.G3685Tp.G1229X40.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
LTN1     11620.p1chr21:
30339069-30339069
AGexonicDe novosynonymous SNVNM_015565c.T1882Cp.L628L--Satterstrom2020 E
LTN1     AU1909304chr21:
30364105-30364105
GTintronicDe novo--Yuen2017 G
LTN1     AU3811305chr21:
30347518-30347518
CTintronicDe novo--Yuen2017 G
LTN1     13358.p1chr21:
30329797-30329797
GAexonicDe novononsynonymous SNVNM_015565c.C2887Tp.L963F13.53-Satterstrom2020 E
LTN1     12497.p1chr21:
30301370-30301370
TCUTR3De novo--Werling2018 G
LTN1     AU056005chr21:
30309722-30309722
TGintronicDe novo--Yuen2017 G
LTN1     AU1355301chr21:
30373509-30373509
GAintergenicDe novo--Yuen2017 G
LTN1     SSC03094chr21:
30339069-30339069
AGexonicDe novosynonymous SNVNM_015565c.T1882Cp.L628L--Lim2017 E
LTN1     Lim2017:5312chr21:
30318550-30318550
CAexonicDe novostopgainNM_015565c.G3685Tp.G1229X40.0-Lim2017 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