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Results for "CLIP1"

Variant Events: 11

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
CLIP1     2-0310-004chr12:
122769744-122769744
CTintronicDe novo--Yuen2017 G
CLIP1     Cukier2014:7590chr12:
122825398-122825398
CTexonicUnknownnonsynonymous SNVNM_198240
NM_002956
NM_001247997
c.G2215A
c.G2320A
c.G2353A
p.E739K
p.E774K
p.E785K
26.00.0102Cukier2014 E
CLIP1     12327.p1chr12:
122825545-122825545
GTexonicMosaicnonsynonymous SNVNM_198240
NM_002956
NM_001247997
c.C2068A
c.C2173A
c.C2206A
p.Q690K
p.Q725K
p.Q736K
19.81-Dou2017 E
CLIP1     PN400266chr12:
122812690-122812690
CCTexonicUnknownframeshift insertionNM_198240
NM_002956
NM_001247997
c.2914dupA
c.3019dupA
c.3052dupA
p.S972fs
p.S1007fs
p.S1018fs
-0.0019Leblond2019 E
CLIP1     2-1173-003chr12:
122895504-122895504
GCintronicDe novo--Yuen2017 G
CLIP1     13171.p1chr12:
122889146-122889146
GCintronicDe novo--Turner2016 G
CLIP1     iHART1157chr12:
122825299-122825299
CAsplicingMaternalsplicing22.04.0E-4Ruzzo2019 G
CLIP1     11572.p1chr12:
122946421-122946421
ATintergenicDe novo--Turner2016 G
CLIP1     AU2333302chr12:
122943372-122943372
AGintergenicDe novo--Yuen2017 G
CLIP1     1-0092-004chr12:
122857496-122857496
GAintronicDe novo--Yuen2017 G
CLIP1     09C99711chr12:
122812695-122812699
TTCCATexonicDe novoframeshift deletionNM_198240
NM_002956
NM_001247997
c.2906_2909del
c.3011_3014del
c.3044_3047del
p.M969fs
p.M1004fs
p.M1015fs
-2.476E-5Satterstrom2020 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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