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Results for "LMNA"

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
LMNA     74-0075chr1:
156055317-156055317
AGintronicDe novo--Michaelson2012 G
LMNA     AU3782303chr1:
156073907-156073907
TCintronicDe novo--Yuen2017 G
LMNA     AU4164301chr1:
156059349-156059349
AGintronicDe novo--Yuen2017 G
LMNA     NDAR_INVEW902YT9_wes1chr1:
156105767-156105767
CTexonicDe novosynonymous SNVNM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625
c.C676T
c.C1012T
c.C1012T
c.C1012T
c.C1012T
c.C769T
c.C1012T
p.L226L
p.L338L
p.L338L
p.L338L
p.L338L
p.L257L
p.L338L
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
LMNA     A13chr1:
156053306-156053306
AGintronicDe novo--Wu2018 G
LMNA     AU007503chr1:
156055317-156055317
AGintronicDe novo--Yuen2017 G
LMNA     AU073005chr1:
156066647-156066647
GTintronicDe novo--Yuen2017 G
LMNA     21304-33563chr1:
156105105-156105105
TCsplicingsplicing18.77-Callaghan2019 G
Source Variant Information

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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
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