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Results for "PLEKHM1"

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
PLEKHM1     AU4060306chr17:
43531384-43531384
CTexonicDe novononsynonymous SNVNM_014798c.G1834Ap.E612K25.01.679E-5Yuen2017 G
PLEKHM1     12921.p1chr17:
43517055-43517055
CCAAGTAGGAATCCTTCAintronicDe novo--Satterstrom2020 E
PLEKHM1     AU3760301chr17:
43552255-43552255
TCintronicDe novo--Yuen2017 G
PLEKHM1     JASD_Fam0136chr17:
43535724-43535724
TCexonicDe novononsynonymous SNVNM_014798c.A1390Gp.I464V0.0098.306E-6Takata2018 E
PLEKHM1     2-1360-003 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
PLEKHM1     NP010chr17:
43535724-43535724
TCexonicDe novononsynonymous SNVNM_014798c.A1390Gp.I464V0.0098.306E-6Satterstrom2020 E
PLEKHM1     SP0010944chr17:
43531356-43531356
CTexonicDe novononsynonymous SNVNM_014798c.G1862Ap.R621Q10.835.041E-5Feliciano2019 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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