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Results for "ABCE1"

Variant Events: 4

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
ABCE1     AU060004chr4:
146022225-146022225
ATintronicDe novo--Yuen2017 G
ABCE1     DEASD_1039_001chr4:
146044579-146044579
CAintronicDe novo--Satterstrom2020 E
ABCE1     AU3053302chr4:
146045613-146045613
TCintronicDe novo--Yuen2017 G
ABCE1     13548.p1chr4:
146044179-146044179
GAexonicDe novononsynonymous SNVNM_001040876
NM_002940
c.G1270A
c.G1270A
p.V424I
p.V424I
34.0-Ji2016 E
Krumm2015 E
Satterstrom2020 E
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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