or
or
Exact

Results for "TRIM55"

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
TRIM55     5-0015-004chr8:
67046842-67046842
ACintronicDe novo--Yuen2017 G
TRIM55     AU2525302chr8:
67066661-67066661
GAintronicDe novo--Yuen2017 G
TRIM55     AU3051303chr8:
67050856-67050856
CTintronicDe novo--Yuen2017 G
TRIM55     iHART3044chr8:
67062628-67062628
TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086
c.T912G
c.T912G
c.T912G
p.Y304X
p.Y304X
p.Y304X
38.06.591E-5Ruzzo2019 G
TRIM55     12587.p1chr8:
67040600-67040600
GAexonicDe novononsynonymous SNVNM_033058
NM_184085
NM_184086
NM_184087
c.G230A
c.G230A
c.G230A
c.G230A
p.R77H
p.R77H
p.R77H
p.R77H
29.92.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
TRIM55     Cukier2014:17678chr8:
67047224-67047224
GAsplicingUnknownsplicing23.34.0E-4Cukier2014 E
TRIM55     iHART2120chr8:
67062468-67062469
TATexonicPaternalframeshift deletionNM_033058
NM_184085
NM_184086
c.855delA
c.855delA
c.855delA
p.L285fs
p.L285fs
p.L285fs
--Ruzzo2019 G
TRIM55     11530.p1chr8:
67062419-67062423
TTAAGTintronicDe novo--Krumm2015 E
Satterstrom2020 E
TRIM55     Cukier2014:37425chr8:
67067937-67067937
CTexonicUnknownnonsynonymous SNVNM_033058c.C1604Tp.T535I21.42.0E-4Cukier2014 E
TRIM55     iHART2121chr8:
67062468-67062469
TATexonicPaternalframeshift deletionNM_033058
NM_184085
NM_184086
c.855delA
c.855delA
c.855delA
p.L285fs
p.L285fs
p.L285fs
--Ruzzo2019 G
TRIM55     iHART3046chr8:
67062628-67062628
TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086
c.T912G
c.T912G
c.T912G
p.Y304X
p.Y304X
p.Y304X
38.06.591E-5Ruzzo2019 G
TRIM55     iHART3047chr8:
67062628-67062628
TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086
c.T912G
c.T912G
c.T912G
p.Y304X
p.Y304X
p.Y304X
38.06.591E-5Ruzzo2019 G
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