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Results for "NUP188"

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
NUP188     11937.p1chr9:
131715118-131715118
CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
NUP188     14071.p1chr9:
131756681-131756681
CTexonicMosaicnonsynonymous SNVNM_015354c.C3047Tp.P1016L23.91.648E-5Dou2017 E
NUP188     1-0075-003chr9:
131735765-131735765
GTintronicDe novo--Yuen2017 G
NUP188     PN400514chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400326chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400507chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400367chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400489chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400564chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400565chr9:
131719297-131719297
CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     PN400464chr9:
131763938-131763938
GAexonicUnknownnonsynonymous SNVNM_015354c.G3974Ap.R1325H30.00.0045Leblond2019 E
NUP188     09C85771chr9:
131721169-131721169
AGexonicDe novononsynonymous SNVNM_015354c.A461Gp.Y154C21.58.378E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
NUP188     SSC03444chr9:
131715118-131715118
CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Lim2017 E
NUP188     AU3786301chr9:
131759406-131759406
AGintronicDe novo--Yuen2017 G
NUP188     AU4343302chr9:
131741574-131741574
GAexonicDe novononsynonymous SNVNM_015354c.G1237Ap.D413N17.918.244E-6Yuen2017 G
NUP188     AGG0002chr9:
131767445-131767445
GAexonicDe novononsynonymous SNVNM_015354c.G4454Ap.C1485Y16.81-Satterstrom2020 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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