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Results for "CLASP1"

Variant Events: 33

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
CLASP1     AU4072303chr2:
122200920-122200920
TCintronicDe novo--Yuen2017 G
CLASP1     2-0088-003chr2:
122238514-122238514
GAintronicDe novo--Yuen2017 G
CLASP1     1-0590-003chr2:
122260437-122260437
GCintronicDe novo--Yuen2017 G
CLASP1     2-1169-004chr2:
122281015-122281015
GAintronicDe novo--Yuen2017 G
CLASP1     AU3787303chr2:
122211734-122211734
CTintronicDe novo--Yuen2017 G
CLASP1     AU4069301chr2:
122275261-122275261
TAintronicDe novo--Yuen2017 G
CLASP1     AU4069301chr2:
122275624-122275624
GCintronicDe novo--Yuen2017 G
CLASP1     12680.p1chr2:
122281801-122281801
CTintronicDe novo--Turner2016 G
CLASP1     1-0401-003chr2:
122351851-122351851
GCintronicDe novo--Yuen2017 G
CLASP1     1-0669-003chr2:
122189991-122189991
GAintronicDe novo--Yuen2017 G
CLASP1     AU3875301chr2:
122232090-122232090
AGintronicDe novo--Yuen2017 G
CLASP1     08C72321chr2:
122285463-122285463
CTexonicDe novononsynonymous SNVNM_001142273
NM_001142274
NM_001207051
NM_015282
c.G382A
c.G382A
c.G382A
c.G382A
p.V128I
p.V128I
p.V128I
p.V128I
11.388.306E-6Satterstrom2020 E
CLASP1     AU3891304chr2:
122292218-122292218
AGintronicDe novo--Yuen2017 G
CLASP1     1-0526-003chr2:
122372421-122372421
GAintronicDe novo--Yuen2017 G
CLASP1     AU030104chr2:
122369381-122369390
TGAGGAGGAGTGAGGAGintronicDe novo--Yuen2017 G
CLASP1     5-0042-003chr2:
122139460-122139460
GAintronicDe novo--Yuen2017 G
CLASP1     1-0465-003chr2:
122338042-122338042
CGintronicDe novo--Yuen2017 G
CLASP1     AU3721302chr2:
122256274-122256274
CAintronicDe novo--Yuen2017 G
CLASP1     AU3764302chr2:
122406537-122406537
TCintronicDe novo--Yuen2017 G
CLASP1     AU4067303chr2:
122252518-122252518
ACintronicDe novo--Yuen2017 G
CLASP1     AU3764302chr2:
122406556-122406556
CTintronicDe novo--Yuen2017 G
CLASP1     14239.p1chr2:
122125310-122125310
ACexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_001142273
NM_015282
c.T3539G
c.T3557G
c.T3563G
c.T3740G
p.L1180R
p.L1186R
p.L1188R
p.L1247R
11.15-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CLASP1     11673.p1chr2:
122154835-122154835
TCexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_015282
NM_001142273
c.A2920G
c.A2938G
c.A3004G
c.A2944G
p.I974V
p.I980V
p.I1002V
p.I982V
18.72-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CLASP1     1-0347-003chr2:
122216454-122216454
CTexonicDe novononsynonymous SNVNM_001142273
NM_001142274
NM_001207051
NM_015282
c.G1276A
c.G1276A
c.G1276A
c.G1276A
p.A426T
p.A426T
p.A426T
p.A426T
27.7-Yuen2017 G
CLASP1     152997chr2:
122176188-122176188
GAintronicDe novo--Satterstrom2020 E
CLASP1     939_2013chr2:
122288448-122288448
TCintronicDe novo-2.0E-4Satterstrom2020 E
CLASP1     1-0514-003chr2:
122207488-122207488
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CLASP1     UK10K_SKUSE5080232chr2:
122122758-122122758
TGexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_001142273
NM_015282
c.A3788C
c.A3806C
c.A3812C
c.A3989C
p.K1263T
p.K1269T
p.K1271T
p.K1330T
23.5-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CLASP1     SSC03203chr2:
122154835-122154835
TCexonicDe novononsynonymous SNVNM_001142274
NM_001207051
NM_015282
NM_001142273
c.A2920G
c.A2938G
c.A3004G
c.A2944G
p.I974V
p.I980V
p.I1002V
p.I982V
18.72-Lim2017 E
CLASP1     1-0465-003achr2:
122338042-122338042
CGintronicDe novo--Yuen2017 G
CLASP1     1-0464-003chr2:
122369176-122369176
ACintronicDe novo--Yuen2017 G
CLASP1     13159.p1chr2:
122161907-122161907
TCintronicDe novo--Satterstrom2020 E
CLASP1     AU2433303chr2:
122364823-122364823
GAintronicDe 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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