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Results for "LTBP2"

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
LTBP2     SP0045640chr14:
74995371-74995371
TCexonicDe novononsynonymous SNVNM_000428c.A2183Gp.H728R18.43-Feliciano2019 E
LTBP2     2-1427-003chr14:
75007935-75007935
GAintronicDe novo--Yuen2017 G
LTBP2     Cukier2014:37994chr14:
74976452-74976452
CTexonicUnknownnonsynonymous SNVNM_000428c.G3262Ap.G1088S18.250.0335Cukier2014 E
LTBP2     2-0307-003chr14:
75045368-75045368
CTintronicDe novo--Yuen2017 G
LTBP2     2-1627-003chr14:
74972368-74972368
GAintronicDe novo--Yuen2017 G
LTBP2     1-0043-003chr14:
75100067-75100067
CTintergenicDe novo--Yuen2017 G
LTBP2     1-0206-004chr14:
75063563-75063563
GAintronicDe novo--Yuen2017 G
LTBP2     AU4089301chr14:
75024218-75024218
TCintronicDe novo--Yuen2017 G
LTBP2     2-1627-003chr14:
74972726-74972726
GTintronicDe novo--Yuen2017 G
LTBP2     ASC_CA_197_Achr14:
74968286-74968300
TGGGGGCTCTGGGAGTexonicDe novoframeshift deletionNM_000428c.5171_5177delp.E1724fs--Satterstrom2020 E
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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