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Results for "ABL1"

Variant Events: 13

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
ABL1     13681.p1chr9:
133759686-133759686
AGexonicDe novononsynonymous SNVNM_005157
NM_007313
c.A2009G
c.A2066G
p.N670S
p.N689S
12.124.0E-4Satterstrom2020 E
ABL1     2-1456-003chr9:
133655822-133655822
AGintronicDe novo--Yuen2017 G
ABL1     14373.p1chr9:
133730284-133730284
CTexonicDe novononsynonymous SNVNM_005157
NM_007313
c.C350T
c.C407T
p.T117M
p.T136M
33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ABL1     2-1645-003chr9:
133676815-133676815
AGintronicDe novo--Yuen2017 G
ABL1     AU056003chr9:
133601491-133601491
AGintronicDe novo--Yuen2017 G
ABL1     AU056003chr9:
133692605-133692605
ACintronicDe novo--Yuen2017 G
ABL1     AU4173301chr9:
133664657-133664657
TCintronicDe novo--Yuen2017 G
ABL1     AU4223302chr9:
133606347-133606347
ACintronicDe novo--Yuen2017 G
ABL1     2-1148-004chr9:
133706114-133706114
TCintronicDe novo--Yuen2017 G
ABL1     SSC11872chr9:
133730284-133730284
CTexonicDe novononsynonymous SNVNM_005157
NM_007313
c.C350T
c.C407T
p.T117M
p.T136M
33.0-Lim2017 E
ABL1     AU3912303chr9:
133739545-133739545
CTintronicDe novo--Yuen2017 G
ABL1     2-1170-003chr9:
133643015-133643015
CTintronicDe novo--Yuen2017 G
ABL1     AU077Achr9:
133730506-133730506
CTintronicDe novo-8.821E-6Kosmicki2017 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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