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Results for "PLEKHM3"

Variant Events: 18

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
PLEKHM3     5-0040-003chr2:
208743417-208743417
TTAAAACTGintronicDe novo--Yuen2017 G
PLEKHM3     2-1153-003chr2:
208942811-208942811
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
PLEKHM3     7-0106-003chr2:
208975496-208975496
GAintergenicDe novo--Yuen2017 G
PLEKHM3     14664.p1chr2:
208977087-208977087
GCintergenicMosaic--Dou2017 E
PLEKHM3     12793.p1chr2:
208762160-208762160
GCintronicDe novo--Turner2016 G
PLEKHM3     12011.p1chr2:
208766675-208766675
CTintronicDe novo--Turner2016 G
PLEKHM3     80001100861chr2:
208866196-208866196
GCexonicDe novononsynonymous SNVNM_001080475c.C168Gp.D56E3.779-Satterstrom2020 E
PLEKHM3     1-0261-004chr2:
208964606-208964606
CTintergenicDe novo--Yuen2017 G
PLEKHM3     2-1160-003chr2:
208970468-208970468
GAintergenicDe novo--Yuen2017 G
PLEKHM3     2-0244-004chr2:
208925080-208925080
GAintergenicDe novo--Yuen2017 G
PLEKHM3     1-0387-003chr2:
208731893-208731893
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PLEKHM3     AU066104chr2:
208846077-208846077
TCintronicDe novo--Yuen2017 G
PLEKHM3     13789.p1chr2:
208693067-208693067
GAexonicMosaicsynonymous SNVNM_001080475c.C2262Tp.F754F-1.662E-5Dou2017 E
PLEKHM3     2-1374-003chr2:
208822438-208822438
ACintronicDe novo--Yuen2017 G
PLEKHM3     AU3905302chr2:
208833946-208833946
TCintronicDe novo--Yuen2017 G
PLEKHM3     Cukier2014:7713chr2:
208842276-208842276
CGexonicUnknownnonsynonymous SNVNM_001080475c.G645Cp.K215N16.960.0112Cukier2014 E
PLEKHM3     DEASD_0252_001chr2:
208795603-208795603
CAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
PLEKHM3     AU4283301chr2:
208708865-208708865
CTintronicDe 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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