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Results for "TRIM55"

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
TRIM55     5-0015-004chr8:
67046842-67046842		ACintronicDe novo--Trost2022 G
Yuen2017 G
TRIM55     AU2525302chr8:
67066661-67066661		GAintronicDe novo--Trost2022 G
Yuen2017 G
TRIM55     SSC04912chr8:
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-4Fu2022 E
Trost2022 G
TRIM55     AU3051303chr8:
67050856-67050856		CTintronicDe novo--Trost2022 G
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     mAGRE3047chr8:
67062628-67062628		TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086		c.T912G
c.T912G
c.T912G		p.Y304X
p.Y304X
p.Y304X		38.06.591E-5Cirnigliaro2023 G
TRIM55     mAGRE3046chr8:
67062628-67062628		TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086		c.T912G
c.T912G
c.T912G		p.Y304X
p.Y304X
p.Y304X		38.06.591E-5Cirnigliaro2023 G
TRIM55     mAGRE3044chr8:
67062628-67062628		TGexonicMaternalstopgainNM_033058
NM_184085
NM_184086		c.T912G
c.T912G
c.T912G		p.Y304X
p.Y304X
p.Y304X		38.06.591E-5Cirnigliaro2023 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
Zhou2022 GE
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     mAGRE2121chr8:
67062468-67062469		TATexonicPaternalframeshift deletionNM_033058
NM_184085
NM_184086		c.855delA
c.855delA
c.855delA		p.L285fs
p.L285fs
p.L285fs		--Cirnigliaro2023 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     mAGRE2120chr8:
67062468-67062469		TATexonicPaternalframeshift deletionNM_033058
NM_184085
NM_184086		c.855delA
c.855delA
c.855delA		p.L285fs
p.L285fs
p.L285fs		--Cirnigliaro2023 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
TRIM55     SSC00927chr8:
67062419-67062423		TTAAGTintronicDe novo--Trost2022 G
TRIM55     MSSNG00024-003Achr8:
67052723-67052723		GAintronicDe novo--Trost2022 G
TRIM55     7-0337-003chr8:
67056931-67056931		GCintronicDe novo--Trost2022 G
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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