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Results for "CLIP2"

Variant Events: 15

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
CLIP2     SSC10599chr7:
73731913-73731913
GTexonicDe novononsynonymous SNVNM_003388
NM_032421
c.G37T
c.G37T
p.G13W
p.G13W
17.368.973E-6Lim2017 E
CLIP2     1-0455-004chr7:
73765207-73765207
AAAAGAAAAAGAAGGGAAGGGAAGGAAGGGAAGAAGintronicDe novo--Yuen2017 G
CLIP2     SP0007102chr7:
73731910-73731910
CTexonicDe novononsynonymous SNVNM_003388
NM_032421
c.C34T
c.C34T
p.R12C
p.R12C
19.578.999E-6Feliciano2019 E
CLIP2     AU3610302chr7:
73754594-73754594
CTintronicDe novo--Yuen2017 G
CLIP2     2-1567-003chr7:
73828972-73828972
CGintergenicDe novo--Yuen2017 G
CLIP2     AU4487302chr7:
73832428-73832428
TCintergenicDe novo--Yuen2017 G
CLIP2     13618.p1chr7:
73790765-73790765
CTexonicDe novosynonymous SNVNM_032421
NM_003388
c.C1929T
c.C2034T
p.H643H
p.H678H
-2.494E-5Krumm2015 E
CLIP2     14101.p1chr7:
73731913-73731913
GTexonicDe novononsynonymous SNVNM_003388
NM_032421
c.G37T
c.G37T
p.G13W
p.G13W
17.368.973E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CLIP2     11341.p1chr7:
73774357-73774357
AGintronicDe novo--Turner2016 G
CLIP2     13515.p1chr7:
73842865-73842865
CGintergenicDe novo--Turner2016 G
CLIP2     AU3343301chr7:
73854854-73854854
GTintergenicDe novo--Yuen2017 G
CLIP2     1-0358-003chr7:
73771303-73771303
CAintronicDe novo--Yuen2017 G
CLIP2     13515.p1chr7:
73842881-73842881
TCintergenicDe novo--Turner2016 G
CLIP2     13515.p1chr7:
73842872-73842872
GAintergenicDe novo--Turner2016 G
CLIP2     13515.p1chr7:
73842878-73842878
AGintergenicDe novo--Turner2016 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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