or
or
Exact

Results for "NUP188"

Variant Events: 21

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
Zhou2022 GE
NUP188     14071.p1chr9:
131756681-131756681		CTexonicMosaicnonsynonymous SNVNM_015354c.C3047Tp.P1016L23.91.648E-5Dou2017 E
NUP188     1-0075-003chr9:
131735765-131735765		GTintronicDe novo--Trost2022 G
Yuen2017 G
NUP188     PN400514chr9:
131719297-131719297		CTexonicUnknownnonsynonymous SNVNM_015354c.C313Tp.R105W20.85.771E-5Leblond2019 E
NUP188     133343chr9:
131765112-131765112		GCexonicnonsynonymous SNVNM_015354c.G4154Cp.R1385P25.5-Woodbury-Smith2022 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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NUP188     SSC03444chr9:
131715118-131715118		CAexonicDe novononsynonymous SNVNM_015354c.C154Ap.P52T29.3-Fu2022 E
Lim2017 E
Trost2022 G
NUP188     SP0037251chr9:
131767552-131767552		GTintronicDe novo--Fu2022 E
Trost2022 G
NUP188     SP0034887chr9:
131741588-131741588		GAexonicDe novosynonymous SNVNM_015354c.G1251Ap.P417P-4.124E-5Trost2022 G
NUP188     7-0454-003chr9:
131768274-131768274		CTintronicDe novo--Trost2022 G
NUP188     AU3786301chr9:
131759406-131759406		AGintronicDe novo--Trost2022 G
Yuen2017 G
NUP188     1-1116-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
NUP188     AU4343302chr9:
131741574-131741574		GAexonicDe novononsynonymous SNVNM_015354c.G1237Ap.D413N17.918.244E-6Yuen2017 G
Zhou2022 GE
NUP188     AGG0002chr9:
131767445-131767445		GAexonicDe novononsynonymous SNVNM_015354c.G4454Ap.C1485Y16.81-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us