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Results for "LDB3"

Variant Events: 18

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
LDB3     1-0191-004chr10:
88482484-88482485
TGCAintronicDe novo--Trost2022 G
LDB3     1-0630-003chr10:
88486365-88486365
ACintronicDe novo--Trost2022 G
LDB3     SP0051605chr10:
88476064-88476064
GGTintronicDe novo-2.0E-4Trost2022 G
LDB3     1-0191-004chr10:
88482477-88482481
ACACGCTGCAintronicDe novo--Trost2022 G
LDB3     4-0062-003chr10:
88469014-88469015
AATTintronicDe novo--Trost2022 G
LDB3     2-1692-003chr10:
88474371-88474371
GTintronicDe novo--Trost2022 G
LDB3     SP0112585chr10:
88466502-88466502
TCintronicDe novo--Fu2022 E
LDB3     SP0110702chr10:
88441257-88441266
GCCCAGGCACGexonicDe novononframeshift deletionNM_001080115
NM_001171611
NM_007078
NM_001171610
c.387_395del
c.387_395del
c.387_395del
c.387_395del
p.129_132del
p.129_132del
p.129_132del
p.129_132del
-3.433E-5Fu2022 E
Zhou2022 GE
LDB3     SP0135299chr10:
88476581-88476581
GAintronicDe novo--Fu2022 E
LDB3     SP0065219chr10:
88469617-88469618
TGTintronicDe novo--Fu2022 E
Trost2022 G
LDB3     09C81574chr10:
88447051-88447061
CGCCACTCAGTCintronicDe novo-3.0E-4Satterstrom2020 E
Trost2022 G
LDB3     SP0074691chr10:
88469728-88469728
CTexonicDe novosynonymous SNVNM_001080114
NM_007078
NM_001171610
c.C822T
c.C1152T
c.C1167T
p.Y274Y
p.Y384Y
p.Y389Y
--Fu2022 E
Trost2022 G
Zhou2022 GE
LDB3     13874.p1chr10:
88475759-88475759
ACintronicDe novo--Turner2016 G
LDB3     REACH000757chr10:
88449712-88449712
TGintronicDe novo--Trost2022 G
LDB3     G01-GEA-268-HIchr10:
88476458-88476458
GAexonicDe novononsynonymous SNVNM_001080114
NM_007078
NM_001171610
c.G1276A
c.G1606A
c.G1621A
p.V426I
p.V536I
p.V541I
13.411.0E-4Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
LDB3     5-5165-003chr10:
88457997-88457997
GTintronicDe novo--Trost2022 G
LDB3     SMHC01587s000chr10:
88476117-88476117
CTexonicDe novononsynonymous SNVNM_001080114
NM_007078
NM_001171610
c.C935T
c.C1265T
c.C1280T
p.A312V
p.A422V
p.A427V
19.81-Yuan2023 E
LDB3     SP0039588chr10:
88466528-88466528
CGintronicDe novo--Fu2022 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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