or
or
Exact

Results for "MPPE1"

Variant Events: 11

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
MPPE1     1-0300-003chr18:
11965862-11965862
CTintergenicDe novo--Yuen2017 G
MPPE1     1-0556-003chr18:
11971068-11971068
CTintergenicDe novo--Yuen2017 G
MPPE1     12568.p1chr18:
11934874-11934874
TCintergenicDe novo--Turner2016 G
MPPE1     AU4467302chr18:
11966037-11966037
CTintergenicDe novo--Yuen2017 G
MPPE1     11565.p1chr18:
11909626-11909626
TTAupstreamDe novo--Werling2018 G
MPPE1     12568.p1chr18:
11934886-11934886
GAintergenicDe novo--Turner2016 G
MPPE1     1-0065-005chr18:
11975938-11975938
GAintergenicDe novo--Yuen2017 G
MPPE1     12568.p1chr18:
11934895-11934895
AGintergenicDe novo--Turner2016 G
MPPE1     1-0065-005chr18:
11900742-11900742
TTAAintronicDe novo--Yuen2017 G
MPPE1     2-0323-004chr18:
11889587-11889587
GAintronicDe novo--Yuen2017 G
MPPE1     AU3506303chr18:
11905725-11905725
GAintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More