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Results for "LRMP"

Variant Events: 7

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
LRMP     iHART2154chr12:
25232353-25232355
ACCAexonicMaternalframeshift deletionNM_001204126
NM_001204127
NM_006152
c.94_95del
c.94_95del
c.94_95del
p.P32fs
p.P32fs
p.P32fs
-6.59E-5Ruzzo2019 G
LRMP     iHART2155chr12:
25232353-25232355
ACCAexonicMaternalframeshift deletionNM_001204126
NM_001204127
NM_006152
c.94_95del
c.94_95del
c.94_95del
p.P32fs
p.P32fs
p.P32fs
-6.59E-5Ruzzo2019 G
LRMP     AU183Achr12:
25236440-25236440
GAintronicDe novo-2.0E-4Kosmicki2017 E
Satterstrom2020 E
LRMP     AU043Achr12:
25256787-25256787
GAexonicDe novononsynonymous SNVNM_001204126
NM_001204127
NM_006152
c.G950A
c.G950A
c.G950A
p.R317K
p.R317K
p.R317K
17.768.25E-6Lim2017 E
LRMP     DEASD_1014_001chr12:
25232296-25232296
TCintronicDe novo--Satterstrom2020 E
LRMP     12463.p1chr12:
25257411-25257411
GCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
LRMP     1-0445-003chr12:
25213434-25213434
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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