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Results for "ACTN4"

Variant Events: 15

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
ACTN4     3-0458-000Bchr19:
39142320-39142320
AGintronicDe novo--Yuen2017 G
ACTN4     2-0242-005chr19:
39197018-39197018
GAintronicDe novo--Yuen2017 G
ACTN4     AU006804chr19:
39154071-39154071
ACintronicDe novo--Yuen2017 G
ACTN4     1-0483-003chr19:
39203345-39203345
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ACTN4     AU3875301chr19:
39203680-39203680
AGintronicDe novo--Yuen2017 G
ACTN4     2-0126-004chr19:
39173982-39173982
GGCintronicDe novo--Yuen2017 G
ACTN4     SSC05414chr19:
39214685-39214685
AGexonicDe novononsynonymous SNVNM_004924c.A1660Gp.M554V10.52-Lim2017 E
ACTN4     2-1261-004chr19:
39179972-39179972
AGintronicDe novo--Yuen2017 G
ACTN4     12252.p1chr19:
39214685-39214685
AGexonicDe novononsynonymous SNVNM_004924c.A1660Gp.M554V10.52-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
ACTN4     1-0201-004chr19:
39201416-39201416
CAintronicDe novo--Yuen2017 G
ACTN4     7-0166-003chr19:
39192641-39192641
GAintronicDe novo--Yuen2017 G
ACTN4     AU3702306chr19:
39180239-39180239
GAintronicDe novo--Yuen2017 G
ACTN4     2-1177-003chr19:
39186919-39186919
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ACTN4     AU3727303chr19:
39177242-39177242
GAintronicDe novo--Yuen2017 G
ACTN4     3-0458-000Achr19:
39142320-39142320
AGintronicDe 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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