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Results for "ASAP2"

Variant Events: 8

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
ASAP2     09C84797chr2:
9467956-9467956
AGexonicDe novononsynonymous SNVNM_001135191
NM_003887
c.A602G
c.A602G
p.Y201C
p.Y201C
23.1-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ASAP2     2-0122-003chr2:
9379517-9379517
TGintronicDe novo--Yuen2017 G
ASAP2     2-1231-003chr2:
9463296-9463296
ATexonicDe novononsynonymous SNVNM_001135191
NM_003887
c.A517T
c.A517T
p.M173L
p.M173L
18.33-Yuen2016 G
Yuen2017 G
ASAP2     2-1196-003chr2:
9489429-9489429
ATintronicDe novo--Yuen2016 G
Yuen2017 G
ASAP2     7-0249-003chr2:
9359855-9359855
AGintronicDe novo--Yuen2017 G
ASAP2     AU4079301chr2:
9465802-9465802
AGintronicDe novo--Yuen2017 G
ASAP2     13942.p1chr2:
9527215-9527215
CGintronicDe novo--Turner2016 G
ASAP2     2-1429-003chr2:
9465530-9465530
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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