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Results for "ACTL8"

Variant Events: 22

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
ACTL8     1-0447-003chr1:
18220813-18220813
TCintergenicDe novo--Yuen2017 G
ACTL8     1-0563-004chr1:
18292234-18292234
CAintergenicDe novo--Yuen2017 G
ACTL8     2-1206-003chr1:
18230928-18230928
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
ACTL8     1-0373-003chr1:
18262005-18262005
CTintergenicDe novo--Yuen2017 G
ACTL8     3-0185-000chr1:
18116495-18116495
TCintronicDe novo--Trost2022 G
ACTL8     1-0925-003chr1:
18378362-18378362
CTintergenicDe novo--Yuen2017 G
ACTL8     3-0019-000chr1:
18105065-18105065
AGintronicDe novo--Trost2022 G
ACTL8     1-0680-003chr1:
18149645-18149645
CTexonicDe novononsynonymous SNVNM_030812c.C142Tp.R48C22.47.0E-4Trost2022 G
ACTL8     2-0244-003chr1:
18225618-18225618
TCintergenicDe novo--Yuen2017 G
ACTL8     MSSNG00344-004chr1:
18146415-18146415
GCintronicDe novo--Trost2022 G
ACTL8     5-0017-004chr1:
18340932-18340932
GAintergenicDe novo--Yuen2017 G
ACTL8     2-0244-004chr1:
18094807-18094807
AGGGintronicDe novo--Trost2022 G
ACTL8     AU4273304chr1:
18294686-18294686
CTintergenicDe novo--Yuen2017 G
ACTL8     7-0222-003chr1:
18265133-18265133
GTintergenicDe novo--Yuen2017 G
ACTL8     AU056803chr1:
18284744-18284744
GAintergenicDe novo--Yuen2017 G
ACTL8     1-0208-003chr1:
18083486-18083486
AGintronicDe novo--Trost2022 G
Yuen2017 G
ACTL8     2-1644-003chr1:
18280289-18280289
GTintergenicDe novo--Yuen2017 G
ACTL8     AU3617302chr1:
18255215-18255215
CTintergenicDe novo--Yuen2017 G
ACTL8     13637.p1chr1:
18374912-18374912
CTintergenicDe novo--Wilfert2021 G
ACTL8     AU050910chr1:
18262392-18262392
TCintergenicDe novo--Yuen2017 G
ACTL8     7-0023-003chr1:
18301932-18301932
AGintergenicDe novo--Yuen2017 G
ACTL8     3-0396-000chr1:
18268769-18268769
AGintergenicDe novo--Yuen2016 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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