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Results for "JMY"

Variant Events: 13

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
JMY     A29chr5:
78541123-78541125
CTGCintronicDe novo--Wu2018 G
JMY     AU047904chr5:
78638174-78638174
TCintergenicDe novo--Yuen2017 G
JMY     1-0579-003chr5:
78628550-78628567
TTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTintergenicDe novo--Yuen2017 G
JMY     5-0061-003chr5:
78583643-78583643
AGintronicDe novo--Yuen2017 G
JMY     AU3721301chr5:
78654635-78654635
ATintergenicDe novo--Yuen2017 G
JMY     PN400546chr5:
78610588-78610588
CTexonicUnknownnonsynonymous SNVNM_152405c.C2573Tp.P858L22.29.394E-5Leblond2019 E
JMY     2-1373-003chr5:
78567630-78567630
GAintronicDe novo--Yuen2016 G
Yuen2017 G
JMY     MT_69chr5:
78595988-78595988
CTexonicPaternalnonsynonymous SNVNM_152405c.C1540Tp.R514W17.437.0E-4Toma2013 E
JMY     1-0113-003chr5:
78600945-78600945
TAintronicDe novo--Yuen2016 G
JMY     AU071203chr5:
78614458-78614458
TGintronicDe novo--Yuen2017 G
JMY     PN400498chr5:
78610588-78610588
CTexonicUnknownnonsynonymous SNVNM_152405c.C2573Tp.P858L22.29.394E-5Leblond2019 E
JMY     AU4308302chr5:
78597204-78597204
GAintronicDe novo--Yuen2017 G
JMY     1-0400-003chr5:
78627013-78627013
CCAATAintergenicDe novo--Yuen2016 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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