or
or
Exact

Results for "USP33"

Variant Events: 12

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
USP33     1-0646-003chr1:
78205128-78205128
ATintronicDe novo--Trost2022 G
USP33     AU058103chr1:
78176321-78176321
GTintronicDe novo--Trost2022 G
Yuen2017 G
USP33     SP0047850chr1:
78186137-78186137
AGintronicDe novo--Trost2022 G
USP33     2-1362-004chr1:
78194903-78194903
TAintronicDe novo--Trost2022 G
Yuen2017 G
USP33     13438.p1chr1:
78163012-78163012
CTexonicMosaic Pat.nonsynonymous SNVNM_201624
NM_015017
c.G2726A
c.G2819A
p.R909Q
p.R940Q
25.8-Dou2017 E
USP33     2-1376-003chr1:
78166293-78166293
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
USP33     AU2029301chr1:
78217673-78217673
CTintronicDe novo--Trost2022 G
Yuen2017 G
USP33     AU4007302chr1:
78170434-78170434
TCintronicDe novo--Trost2022 G
Yuen2017 G
USP33     REACH000173chr1:
78215603-78215603
AGintronicDe novo--Trost2022 G
USP33     SP0068466chr1:
78181530-78181530
GAexonicDe novostopgainNM_201624
NM_015017
NM_201626
c.C1942T
c.C2035T
c.C2011T
p.R648X
p.R679X
p.R671X
19.97-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
USP33     1-0287-003chr1:
78209615-78209615
AGintronicDe novo--Trost2022 G
USP33     Wang2023:372chr1:
78207116-78207116
TCsplicingDe novosplicing20.3-Wang2023 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