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Results for "CASKIN1"

Variant Events: 20

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
CASKIN1     12346.p1chr16:
2239488-2239488
CTexonicnonsynonymous SNVNM_020764c.G322Ap.V108M12.6-Zhou2022 GE
CASKIN1     AU054103chr16:
2233244-2233244
CTintronicDe novo--Trost2022 G
Yuen2017 G
CASKIN1     SP0084185chr16:
2235158-2235158
CTexonicDe novononsynonymous SNVNM_020764c.G1193Ap.R398Q14.011.0E-4Trost2022 G
Zhou2022 GE
CASKIN1     AC05-0002-01chr16:
2235199-2235199
ACexonicDe novosynonymous SNVNM_020764c.T1152Gp.G384G-1.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CASKIN1     DEASD_0362_001chr16:
2235447-2235447
CTintronicDe novo-3.389E-5Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
CASKIN1     5-0043-003chr16:
2230591-2230591
GAexonicDe novosynonymous SNVNM_020764c.C2778Tp.A926A-4.737E-5Trost2022 G
Zhou2022 GE
CASKIN1     SP0110886chr16:
2228600-2228600
CGexonicnonsynonymous SNVNM_020764c.G4247Cp.G1416A24.4-Zhou2022 GE
CASKIN1     1-0329-004chr16:
2253797-2253797
GTintergenicDe novo--Yuen2017 G
CASKIN1     AU1933302chr16:
2250087-2250087
AGintergenicDe novo--Yuen2017 G
CASKIN1     SSC04350chr16:
2239488-2239488
CTexonicnonsynonymous SNVNM_020764c.G322Ap.V108M12.6-Antaki2022 GE
CASKIN1     More2023:19chr16:
2231252-2231252
GAexonicInheritednonsynonymous SNVNM_020764c.C2117Tp.S706L13.78.0E-4More2023 G
CASKIN1     SP0145800chr16:
2239244-2239244
CTexonicDe novononsynonymous SNVNM_020764c.G481Ap.V161I17.041.698E-5Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CASKIN1     SP0019543chr16:
2231018-2231018
CAexonicDe novononsynonymous SNVNM_020764c.G2351Tp.R784L6.296-Fu2022 E
Trost2022 G
Zhou2022 GE
CASKIN1     SP0012053chr16:
2239547-2239547
TGexonicDe novononsynonymous SNVNM_020764c.A263Cp.Y88S17.81-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CASKIN1     SP0080559chr16:
2234861-2234861
GAexonicDe novononsynonymous SNVNM_020764c.C1333Tp.R445W13.251.895E-5Fu2022 E
Trost2022 G
Zhou2022 GE
CASKIN1     SP0017285chr16:
2237244-2237244
TCexonicDe novononsynonymous SNVNM_020764c.A758Gp.Y253C19.75-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CASKIN1     SSC07949chr16:
2231151-2231152
TGTexonicframeshift deletionNM_020764c.2217delCp.P739fs--Antaki2022 GE
CASKIN1     1-0591-003chr16:
2243329-2243329
TCintronicDe novo--Trost2022 G
Yuen2017 G
CASKIN1     13395.p1chr16:
2231151-2231152
TGTexonicDe novoframeshift deletionNM_020764c.2217delCp.P739fs--Wilfert2021 G
Zhou2022 GE
CASKIN1     SP0012087chr16:
2228488-2228488
TGUTR3De novo--Trost2022 G
Trost2022 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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