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Results for "PLTP"

Variant Events: 11

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
PLTP     1-0494-003chr20:
44535732-44535732
CTintronicDe novo--Yuen2017 G
PLTP     G01-GEA-204-HIchr20:
44540024-44540024
TCexonicDe novononsynonymous SNVNM_001242920
NM_006227
NM_182676
c.A68G
c.A68G
c.A68G
p.K23R
p.K23R
p.K23R
16.96-Satterstrom2020 E
PLTP     iHART2985chr20:
44531108-44531109
GCGexonicPaternalframeshift deletionNM_001242920
NM_001242921
NM_182676
NM_006227
c.792delG
c.813delG
c.921delG
c.1077delG
p.Q264fs
p.Q271fs
p.Q307fs
p.Q359fs
-8.251E-6Ruzzo2019 G
PLTP     AU3888302chr20:
44555823-44555823
TAintergenicDe novo--Yuen2017 G
PLTP     AU056604chr20:
44545696-44545696
GAintergenicDe novo--Yuen2017 G
PLTP     SJD_49chr20:
44536520-44536520
GAexonicMaternalnonsynonymous SNVNM_001242920
NM_001242921
NM_182676
NM_006227
c.C224T
c.C245T
c.C353T
c.C509T
p.T75M
p.T82M
p.T118M
p.T170M
18.366.032E-5Toma2013 E
PLTP     iHART2809chr20:
44536527-44536527
GGAexonicPaternalframeshift insertionNM_001242920
NM_001242921
NM_182676
NM_006227
c.216dupT
c.237dupT
c.345dupT
c.501dupT
p.L73fs
p.L80fs
p.L116fs
p.L168fs
--Ruzzo2019 G
PLTP     AU054304chr20:
44562300-44562300
GAintergenicDe novo--Yuen2017 G
PLTP     AU072004chr20:
44561343-44561343
GAintergenicDe novo--Yuen2017 G
PLTP     iHART2807chr20:
44536527-44536527
GGAexonicPaternalframeshift insertionNM_001242920
NM_001242921
NM_182676
NM_006227
c.216dupT
c.237dupT
c.345dupT
c.501dupT
p.L73fs
p.L80fs
p.L116fs
p.L168fs
--Ruzzo2019 G
PLTP     2-1508-003chr20:
44535710-44535710
AGintronicDe 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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