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Results for "LSMEM1"

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
LSMEM1     2-0142-004chr7:
112183098-112183099
GCGintergenicDe novo--Yuen2017 G
LSMEM1     AU050604chr7:
112248040-112248040
GCintergenicDe novo--Yuen2017 G
LSMEM1     NDAR_INVEW902YT9_wes1chr7:
112129963-112129963
CTexonicstopgainNM_001134468
NM_182597
c.C355T
c.C355T
p.R119X
p.R119X
38.01.65E-5Doan2019 E
LSMEM1     13298.p1chr7:
112148879-112148879
CTintergenicDe novo--Turner2016 G
LSMEM1     5-0077-003chr7:
112206324-112206324
ATintergenicDe novo--Yuen2017 G
LSMEM1     2-0238-003chr7:
112125658-112125658
CTintronicDe novo--Yuen2017 G
LSMEM1     2-1195-003chr7:
112126436-112126436
AGintronicDe novo7.36-Yuen2016 G
Yuen2017 G
LSMEM1     AU4007302chr7:
112221279-112221283
CAAAACAAAintergenicDe novo--Yuen2017 G
LSMEM1     2-0006-004chr7:
112128316-112128316
GAintronicDe 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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