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Results for "CLASP2"

Variant Events: 16

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
CLASP2     12518.p1chr3:
33796625-33796625
AACACintergenicDe novo--Werling2018 G
CLASP2     SP0039371chr3:
33648243-33648243
TCexonicDe novononsynonymous SNVNM_001207044
NM_015097
c.A835G
c.A1537G
p.M279V
p.M513V
14.53-Feliciano2019 E
CLASP2     1-0772-003chr3:
33667653-33667656
CAAACAAintronicDe novo--Yuen2017 G
CLASP2     AU104Achr3:
33626236-33626236
TAintronicDe novo-2.787E-5Satterstrom2020 E
CLASP2     2-1702-004chr3:
33828444-33828444
GCintergenicDe novo--Yuen2017 G
CLASP2     2-1702-004chr3:
33829651-33829651
ACintergenicDe novo--Yuen2017 G
CLASP2     AU075703chr3:
33692335-33692335
AGintronicDe novo--Yuen2017 G
CLASP2     DEASD_0076_001chr3:
33558580-33558580
CTexonicDe novononsynonymous SNVNM_001207044
NM_015097
c.G3238A
c.G3901A
p.A1080T
p.A1301T
18.8-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CLASP2     AU4235302chr3:
33708065-33708065
AGintronicDe novo--Yuen2017 G
CLASP2     2-1348-003chr3:
33704058-33704058
CGintronicDe novo--Yuen2017 G
CLASP2     2-1235-004chr3:
33642741-33642741
CTintronicDe novo--Yuen2017 G
CLASP2     AU018010chr3:
33723638-33723638
ATintronicDe novo--Yuen2017 G
CLASP2     2-0098-003chr3:
33648627-33648627
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CLASP2     1-0683-003chr3:
33582484-33582484
CTintronicDe novo--Yuen2017 G
CLASP2     1-0436-003chr3:
33751155-33751155
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CLASP2     7-0024-003chr3:
33542264-33542264
CTintronicDe 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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