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Results for "LEKR1"

Variant Events: 16

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
LEKR1     3-0169-000chr3:
156572362-156572362
TCintronicDe novo--Yuen2016 G
LEKR1     2-1422-003chr3:
156689794-156689794
GAintronicDe novo--Yuen2017 G
LEKR1     AU3763305chr3:
156783505-156783505
GTintergenicDe novo--Yuen2017 G
LEKR1     2-1174-005Bchr3:
156646917-156646917
AGintronicDe novo--Yuen2017 G
LEKR1     AU1952305chr3:
156597000-156597000
CTintronicDe novo--Yuen2017 G
LEKR1     3-0018-000chr3:
156634257-156634257
TGintronicDe novo--Yuen2017 G
LEKR1     13050.p1chr3:
156570593-156570593
GAexonicMosaicnonsynonymous SNVNM_001004316
NM_001193283
c.G85A
c.G85A
p.V29I
p.V29I
18.22-Krupp2017 E
LEKR1     mAGRE2888chr3:
156570632-156570633
GAGexonicMaternalframeshift deletionNM_001004316
NM_001193283
c.125delA
c.125delA
p.E42fs
p.E42fs
--Cirnigliaro2023 G
LEKR1     AU060403chr3:
156605192-156605192
CGintronicDe novo--Yuen2017 G
LEKR1     1-0381-003chr3:
156622364-156622365
TCTintronicDe novo--Yuen2017 G
LEKR1     iHART2888chr3:
156570632-156570633
GAGexonicMaternalframeshift deletionNM_001004316
NM_001193283
c.125delA
c.125delA
p.E42fs
p.E42fs
--Ruzzo2019 G
LEKR1     2-1370-003chr3:
156617372-156617374
CATCintronicDe novo--Yuen2017 G
LEKR1     AU3645301chr3:
156697366-156697366
CTintronicDe novo--Yuen2017 G
LEKR1     2-1346-003chr3:
156733716-156733716
ATintronicDe novo--Yuen2017 G
LEKR1     AU3885304chr3:
156713440-156713440
GAintronicDe novo--Yuen2017 G
LEKR1     7-0251-003chr3:
156714059-156714059
TAintronicDe 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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