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Results for "TRIM66"

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
TRIM66     3-0661-000chr11:
8634053-8634053
GCUTR3De novo--Yuen2017 G
TRIM66     AU2075301chr11:
8673346-8673346
CTsplicingDe novosplicing22.3-Cirnigliaro2023 G
Yuen2017 G
Zhou2022 GE
TRIM66     1-0224-004chr11:
8642065-8642065
GAexonicDe novosynonymous SNVNM_014818c.C3072Tp.Y1024Y9.2114.851E-5Yuen2017 G
Zhou2022 GE
TRIM66     AU4234303chr11:
8686962-8686962
CTintergenicDe novo--Yuen2017 G
TRIM66     SMHC01654s000chr11:
8662081-8662081
GAexonicDe novononsynonymous SNVNM_014818c.C1406Tp.P469L9.989-Yuan2023 E
TRIM66     Wang2023:179chr11:
8662648-8662649
TATexonicDe novoframeshift deletionNM_014818c.838delTp.Y280fs--Wang2023 E
TRIM66     2-1313-003chr11:
8637297-8637297
CAUTR3De novo--Yuen2016 G
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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