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Results for "MOGAT1"

Variant Events: 9

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
MOGAT1     13043.p1chr2:
223554125-223554125
TCexonicMosaicnonsynonymous SNVNM_058165c.T415Cp.Y139H7.745-Krupp2017 E
MOGAT1     3-0391-000chr2:
223592253-223592253
TAintergenicDe novo--Yuen2017 G
MOGAT1     3-0482-000chr2:
223584470-223584470
CTintergenicDe novo--Yuen2017 G
MOGAT1     2-1129-003chr2:
223576949-223576949
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
MOGAT1     2-0171-003chr2:
223565233-223565233
CTintronicDe novo--Yuen2017 G
MOGAT1     2-1398-004chr2:
223567432-223567432
AGintronicDe novo--Yuen2017 G
MOGAT1     AU061104chr2:
223591959-223591959
ATintergenicDe novo--Yuen2017 G
MOGAT1     AU4365302chr2:
223643222-223643226
CAAAACAAAintergenicDe novo--Yuen2017 G
MOGAT1     1-0271-003chr2:
223721661-223721661
CTintergenicDe 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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