Variant #0000455431 (NC_000002.11:g.27521582G>A, NM_187841.2:c.316G>A (TRIM54))

Individual ID 00219399
Chromosome 2
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.27521582G>A
DNA change (hg38) g.27298714G>A
Published as -
ISCN -
DB-ID TRIM54_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Olivé 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation no
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00031 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-02-09 18:21:14 +01:00 (CET)
Date last edited 2019-02-09 18:34:44 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TRIM54 NM_187841.2 +?/. - c.316G>A r.316g>a p.Asp106Asn



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220471 DNA;RNA RT-PCR;SEQ;SEQ-NG - candidate gene screening and WES TRIM54, TRIM63 11 Johan den Dunnen


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