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Results for "CERS3"

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
CERS3     74-0117chr15:
100981388-100981388
CTintronicUnknown--Michaelson2012 G
CERS3     1-0459-004chr15:
100991121-100991121
GCintronicDe novo--Yuen2017 G
CERS3     2-1430-003chr15:
101037416-101037416
GGAintronicDe novo--Yuen2016 G
CERS3     2-1501-003chr15:
101076628-101076628
GAintronicDe novo--Yuen2017 G
CERS3     2-1180-003chr15:
101052474-101052474
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CERS3     AU1668302chr15:
101036516-101036516
CTintronicDe novo--Yuen2017 G
CERS3     2-1268-003chr15:
101081243-101081243
CTintronicDe novo--Yuen2016 G
Yuen2017 G
CERS3     AU2137304chr15:
101075801-101075801
GAintronicDe novo--Yuen2017 G
CERS3     1-0380-003chr15:
101058588-101058588
GAintronicDe novo--Yuen2017 G
CERS3     7-0102-003chr15:
101078316-101078316
AGintronicDe novo--Yuen2017 G
CERS3     AU3343301chr15:
101030613-101030613
TAintronicDe 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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