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Results for "TRIM67"

Variant Events: 8

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
TRIM67     1-0699-003chr1:
231306091-231306091
TGintronicDe novo--Yuen2017 G
TRIM67     111304chr1:
231299358-231299358
CAexonicnonsynonymous SNVNM_001004342
NM_001300889
c.C643A
c.C523A
p.P215T
p.P175T
24.4-Woodbury-Smith2022 E
TRIM67     2-1505-003chr1:
231337994-231337994
TCintronicDe novo--Yuen2017 G
TRIM67     iHART2234chr1:
231299384-231299384
CAexonicPaternalstopgainNM_001004342
NM_001300889
c.C669A
c.C549A
p.C223X
p.C183X
45.0-Ruzzo2019 G
TRIM67     A16chr1:
231329238-231329238
CCCTintronicDe novo--Wu2018 G
TRIM67     1-0402-003chr1:
231337999-231337999
AATAATGGintronicDe novo--Yuen2017 G
TRIM67     A16chr1:
231333593-231333593
AGintronicDe novo--Wu2018 G
TRIM67     2-1734-003chr1:
231347733-231347733
AGintronicDe novo--Yuen2017 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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