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Results for "LTBP1"

Variant Events: 26

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
LTBP1     2-1280-003chr2:
33325341-33325341
ATintronicDe novo--Yuen2016 G
Yuen2017 G
LTBP1     AU3053302chr2:
33267895-33267895
AGintronicDe novo--Yuen2017 G
LTBP1     AU4033304chr2:
33278598-33278598
CTintronicDe novo--Yuen2017 G
LTBP1     A13chr2:
33548778-33548778
AGintronicDe novo--Wu2018 G
LTBP1     AU4056302chr2:
33295588-33295588
GAintronicDe novo--Yuen2017 G
LTBP1     1-0395-003chr2:
33553708-33553708
CTintronicDe novo--Yuen2017 G
LTBP1     5-0106-003chr2:
33581468-33581468
CTintronicDe novo--Yuen2017 G
LTBP1     1-0395-004chr2:
33553708-33553708
CTintronicDe novo--Yuen2017 G
LTBP1     2-0149-005chr2:
33261239-33261239
GCintronicDe novo--Yuen2017 G
LTBP1     AU4314302chr2:
33423516-33423516
AGintronicDe novo--Yuen2017 G
LTBP1     A25chr2:
33439479-33439479
GAintronicDe novo--Wu2018 G
LTBP1     2-1426-003chr2:
33443510-33443510
CTintronicDe novo--Yuen2017 G
LTBP1     11301.p1chr2:
33572486-33572486
ACexonicDe novononsynonymous SNVNM_001166264
NM_001166266
NM_000627
NM_001166265
NM_206943
c.A2805C
c.A2646C
c.A2931C
c.A2772C
c.A3909C
p.E935D
p.E882D
p.E977D
p.E924D
p.E1303D
20.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
LTBP1     AU1933302chr2:
33544333-33544333
CGintronicDe novo--Yuen2017 G
LTBP1     2-0070-004chr2:
33477922-33477922
CTintronicDe novo--Yuen2017 G
LTBP1     2-1430-003chr2:
33316634-33316634
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LTBP1     7-0192-003chr2:
33595472-33595472
AGintronicDe novo--Yuen2017 G
LTBP1     AU4356302chr2:
33451498-33451498
GAintronicDe novo--Yuen2017 G
LTBP1     2-1230-003chr2:
33307402-33307402
TCintronicDe novo--Yuen2016 G
Yuen2017 G
LTBP1     AU3857301chr2:
33285482-33285484
CATCintronicDe novo--Yuen2017 G
LTBP1     2-0223-003chr2:
33177015-33177015
AGintronicDe novo--Yuen2017 G
LTBP1     AU3517302chr2:
33378207-33378207
GCintronicDe novo--Yuen2017 G
LTBP1     AU4093304chr2:
33424272-33424272
GAintronicDe novo--Yuen2017 G
LTBP1     3-0307-000chr2:
33458684-33458684
CAintronicDe novo--Yuen2017 G
LTBP1     2-0022-003chr2:
33367577-33367577
GAintronicDe novo--Yuen2017 G
LTBP1     AU072504chr2:
33506769-33506769
TCintronicDe novo--Yuen2017 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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