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Results for "MYSM1"

Variant Events: 10

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
MYSM1     UK10K_SKUSE5080234chr1:
59147575-59147575
TCexonicDe novononsynonymous SNVNM_001085487c.A1141Gp.I381V9.507-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MYSM1     AU4476302chr1:
59133826-59133826
CAintronicDe novo--Yuen2017 G
MYSM1     1-0213-004chr1:
59174680-59174680
TGintergenicDe novo--Yuen2017 G
MYSM1     13289.p1chr1:
59132683-59132683
TCintronicDe novo--Satterstrom2020 E
MYSM1     SP0001510chr1:
59147934-59147934
TAexonicDe novononsynonymous SNVNM_001085487c.A782Tp.E261V7.157-Feliciano2019 E
MYSM1     7-0055-003chr1:
59210962-59210962
CTintergenicDe novo--Yuen2017 G
MYSM1     AU2165301chr1:
59231867-59231867
GAintergenicDe novo--Yuen2017 G
MYSM1     7-0135-003chr1:
59154127-59154127
TCintronicDe novo--Yuen2017 G
MYSM1     1-0271-003chr1:
59205757-59205757
TGintergenicDe novo--Yuen2017 G
MYSM1     AU3764302chr1:
59149548-59149548
GAintronicDe 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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