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Results for "MKRN3"

Variant Events: 8

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
MKRN3     AU2137304chr15:
23858894-23858894
GAintergenicDe novo--Yuen2017 G
MKRN3     AU3891302chr15:
23811694-23811694
GAexonicDe novosynonymous SNVNM_005664c.G765Ap.G255G--Yuen2017 G
MKRN3     1-0278-003chr15:
23866419-23866419
TCintergenicDe novo--Yuen2016 G
MKRN3     AU3839303chr15:
23869967-23869967
GCintergenicDe novo--Yuen2017 G
MKRN3     iHART3081chr15:
23812277-23812277
CTexonicMaternalstopgainNM_005664c.C1348Tp.R450X37.0-Ruzzo2019 G
MKRN3     AU2711303chr15:
23874139-23874139
AGintergenicDe novo--Yuen2017 G
MKRN3     2-1702-004chr15:
23817000-23817004
TTAACTintergenicDe novo--Yuen2017 G
MKRN3     1-0441-003chr15:
23837753-23837753
ACintergenicDe novo--Yuen2016 G
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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