or
or
Exact

Results for "NUP205"

Variant Events: 7

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
NUP205     AU1894304chr7:
135308852-135308852
AGintronicDe novo--Yuen2017 G
NUP205     2-1505-004chr7:
135285784-135285784
TCintronicDe novo--Yuen2017 G
NUP205     PN400321chr7:
135327969-135327969
CTexonicUnknownnonsynonymous SNVNM_015135c.C5422Tp.R1808C21.32.0E-4Leblond2019 E
NUP205     SP0124588chr7:
135262608-135262608
AGexonicDe novononsynonymous SNVNM_015135c.A713Gp.Q238R28.6-Fu2022 E
NUP205     P1193chr7:
135333246-135333246
GCexonicDe novononsynonymous SNVNM_015135c.G5981Cp.S1994T9.086-Hashimoto2016 E
NUP205     DEASD_0243_001chr7:
135277850-135277850
GAexonicDe novosynonymous SNVNM_015135c.G1740Ap.Q580Q--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
NUP205     111309chr7:
135262689-135262689
AGexonicnonsynonymous SNVNM_015135c.A794Gp.D265G22.6-Woodbury-Smith2022 E
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