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Results for "DYM"

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
DYM     AU045512chr18:
46604700-46604700
TAintronicDe novo--Yuen2017 G
DYM     1-0344-003chr18:
46808221-46808221
TCintronicDe novo--Yuen2017 G
DYM     AU2427302chr18:
46800909-46800909
GAintronicDe novo--Yuen2017 G
DYM     1-0777-003chr18:
46725027-46725027
GAintronicDe novo--Yuen2017 G
DYM     2-1168-003chr18:
46615870-46615870
TCintronicDe novo--Yuen2016 G
Yuen2017 G
DYM     1-0453-003chr18:
46886064-46886064
GAintronicDe novo--Yuen2017 G
DYM     AU056804chr18:
46978551-46978551
GAintronicDe novo--Yuen2017 G
DYM     2-1526-004chr18:
46690695-46690695
AGintronicDe novo--Yuen2017 G
DYM     1-0383-003chr18:
46786449-46786449
CAintronicDe novo--Yuen2017 G
DYM     1-0383-003chr18:
46821088-46821088
CGintronicDe novo--Yuen2017 G
DYM     2-1189-003chr18:
47005840-47005840
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
DYM     1-0998-003chr18:
46593129-46593129
TGintronicDe novo--Yuen2017 G
DYM     AU3809302chr18:
46574766-46574766
CAintronicDe novo--Yuen2017 G
DYM     AU3782303chr18:
46861883-46861883
TCintronicDe novo--Yuen2017 G
DYM     AU3964302chr18:
46909272-46909278
TGAGAGATGAGAintronicDe novo--Yuen2017 G
DYM     MT_28chr18:
46812830-46812830
GAexonicMaternalnonsynonymous SNVNM_017653c.C920Tp.A307V15.375.767E-5Toma2013 E
DYM     2-1178-003chr18:
46581441-46581441
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DYM     2-1477-003chr18:
46657649-46657649
GAintronicDe 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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