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Results for "LSS"

Variant Events: 9

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
LSS     AU3951302chr21:
47613646-47613654
ATGTGTGTGATGTGTGintronicDe novo--Yuen2017 G
LSS     AU4246304chr21:
47643631-47643631
CAintronicDe novo--Yuen2017 G
LSS     12832.p1chr21:
47628169-47628169
CTexonicMosaicnonsynonymous SNVNM_001145437
NM_001001438
NM_001145436
NM_002340
c.G1073A
c.G1313A
c.G1280A
c.G1313A
p.R358H
p.R438H
p.R427H
p.R438H
15.664.757E-5Dou2017 E
Krupp2017 E
LSS     2-1341-004chr21:
47639195-47639195
TCintronicDe novo--Yuen2017 G
LSS     iHART2029chr21:
47647474-47647475
AGAexonicMaternalframeshift deletionNM_001145437
NM_001001438
NM_001145436
NM_002340
c.70delC
c.310delC
c.310delC
c.310delC
p.L24fs
p.L104fs
p.L104fs
p.L104fs
--Ruzzo2019 G
LSS     1-0559-003chr21:
47641214-47641214
CTintronicDe novo--Yuen2017 G
LSS     iHART1611chr21:
47633701-47633702
CGCexonicPaternalframeshift deletionNM_001145437
NM_001001438
NM_001145436
NM_002340
c.819delC
c.1059delC
c.1026delC
c.1059delC
p.P273fs
p.P353fs
p.P342fs
p.P353fs
--Ruzzo2019 G
LSS     12704.p1chr21:
47628255-47628255
GAintronicDe novo-0.0011Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
LSS     2-1093-005chr21:
47640661-47640664
GGCCGintronicDe 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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