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Results for "LAMB3"

Variant Events: 8

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
LAMB3     12839.p1chr1:
209806043-209806043
CGexonicMosaic Mat.nonsynonymous SNVNM_001017402
NM_000228
NM_001127641
c.G707C
c.G707C
c.G707C
p.S236T
p.S236T
p.S236T
17.538.249E-6Dou2017 E
LAMB3     7-0068-003chr1:
209825570-209825570
AGintronicDe novo--Yuen2017 G
LAMB3     F9483-1chr1:
209800878-209800878
GAexonicDe novosynonymous SNVNM_001017402
NM_000228
NM_001127641
c.C1335T
c.C1335T
c.C1335T
p.D445D
p.D445D
p.D445D
-5.812E-5Satterstrom2020 E
LAMB3     2-1381-003chr1:
209798932-209798932
CAintronicDe novo--Yuen2017 G
LAMB3     SSC06545chr1:
209823359-209823359
ACexonicDe novononsynonymous SNVNM_001017402
NM_000228
NM_001127641
c.T133G
c.T133G
c.T133G
p.S45A
p.S45A
p.S45A
22.7-Lim2017 E
LAMB3     12605.p1chr1:
209823359-209823359
ACexonicDe novononsynonymous SNVNM_001017402
NM_000228
NM_001127641
c.T133G
c.T133G
c.T133G
p.S45A
p.S45A
p.S45A
22.7-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
LAMB3     2-1382-003chr1:
209836245-209836245
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
LAMB3     546-05-104376chr1:
209800773-209800773
CTexonicDe novosynonymous SNVNM_001017402
NM_000228
NM_001127641
c.G1440A
c.G1440A
c.G1440A
p.P480P
p.P480P
p.P480P
-8.342E-6Satterstrom2020 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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